Exam 3

Question 1

a judgement made on behalf of a noncompetent patient and based on what that person would have decided had they been competent

Answer 1

Substituted Judgement

Question 2

Substituted Judgement

Answer 2

a judgement made on behalf of a noncompetent patient and based on what that person would have decided had they been competent

Question 3

has its origins in family law and has become the prevailing standard used to judge the adequacy of medical decision making on behalf of pediatric patients

Answer 3

Best interest standard

Question 4

Best interest standard

Answer 4

has its origins in family law and has become the prevailing standard used to judge the adequacy of medical decision making on behalf of pediatric patients

Question 5

incorporates the total well being of the individual rather just the medical well being

Answer 5

Best interest standard

Question 6

a process who involves a competent individual voluntarily receiving and understanding information and then decision -making

Answer 6

Informed consent

Question 7

what is Informed consent

Answer 7

a process who involves a competent individual voluntarily receiving and understanding information and then decision -making

Question 8

term used to be applied when parents give permission for medical treatment on behalf of their child or adolescent

Answer 8

Parental Permission

Question 9

Can a parent or legal guardian give legal consent for their child?

Answer 9

technically no, because because the person for whom the treatment is planned gives only informed consent. Parental permission is a more correct term

Question 10

a broad term that covers the study of the nature of morals and the specific moral choices to be made

Answer 10

Ethics

Question 11

type of ethics:
ethics attempts to answer the question, “Which general moral norms for the guidance and evaluation of conduct should we accept, and why?”

Answer 11

Normative

Question 12

what type of morality?
not to kill, or harm, or cause suffering to others, not to steal, not to punish the innocent, to be truthful, to obey the law, to nurture the young and dependent, to help the suffering, and rescue those in danger

Answer 12

Common Morality

Question 13

What type of morality?
refers to norms that bind groups because of their culture, religion, profession and include responsibilities, ideals, professional standards, and so on

Answer 13

Particular

Question 14

what type of morality does this example represent?
the physician’s “accepted role” to provide competent and trustworthy service to their patients.

Answer 14

Particular

Question 15

What war contributed to leading the rapid evolution of bioethics?

Answer 15

experimentation in concentration camps in World War II

Question 16

4 principles of ethics

Answer 16

Beneficence
Nonmaleficence
Autonomy
Justice

Question 17

which 2 principles of ethics can be traced back to the time of Hippocrates, “to help and do no harm”

Answer 17

Beneficence
Nonmaleficence

The other 2 evolved later

Question 18

the obligation of physician to act for the benefit of the patient and supports a number of moral rules to protect and defend the right of others, prevent harm, remove conditions that will cause harm, help persons with disabilities, and rescue persons in danger.

Answer 18

Beneficence

Question 19

The principle calls for not just avoiding harm, but also to benefit patients and to promote their welfare. While physicians’ beneficence conforms to moral rules, and is altruistic, it is also true that in many instances it can be considered a payback for the debt to society for education (often subsidized by governments), ranks and privileges, and to the patients themselves (learning and research).

Answer 19

Beneficence

Question 20

the obligation of a physician not to harm the patient.

Answer 20

Nonmaleficence

Question 21

This simply stated principle supports several moral rules – do not kill, do not cause pain or suffering, do not incapacitate, do not cause offense, and do not deprive others of the goods of life.

Answer 21

Nonmaleficence

Question 22

The practical application of _________ is for the physician to weigh the benefits against burdens of all interventions and treatments, to eschew those that are inappropriately burdensome, and to choose the best course of action for the patient.

Answer 22

nonmaleficence

Question 23

which ethical principle is particularly important and pertinent in difficult end-of-life care decisions on withholding and withdrawing life-sustaining treatment, medically administered nutrition and hydration, and in pain and other symptom control. A physician’s obligation and intention to relieve the suffering (e.g., refractory pain or dyspnea) of a patient by the use of appropriate drugs including opioids override the foreseen but unintended harmful effects or outcome (doctrine of double effect) [7, 8].

Answer 23

Nonmaleficence

Question 24

which ethical principle?
The philosophical underpinning for ________, as interpreted by philosophers Immanuel Kant (1724–1804) and John Stuart Mill (1806–1873), and accepted as an ethical principle, is that all persons have intrinsic and unconditional worth, and therefore, should have the power to make rational decisions and moral choices, and each should be allowed to exercise his or her capacity for self-determination

Answer 24

Autonomy

Question 25

This ethical principle was affirmed in a court decision by Justice Cardozo in 1914 with the epigrammatic dictum, “Every human being of adult years and sound mind has a right to determine what shall be done with his own body”

Answer 25

Autonomy

Question 26

example of when would autonomy need to be weighed against another competing moral principle, being overridden?

Answer 26

an obvious example would be if the autonomous action of a patient causes harm to another person(s).

Question 27

The principle of autonomy does not extend to

Answer 27

persons who lack the capacity (competence) to act autonomously; examples include infants and children and incompetence due to developmental, mental or physical disorder.

Question 28

who determines incapacity to make health-care decisions?

Who determines incompetence?

Answer 28

Health care professionals

Incompetence is determined by a court of law

Question 29

Respecting the principle of _________obliges the physician to disclose medical information and treatment options that are necessary for the patient to exercise self-determination and supports informed consent, truth-telling, and confidentiality.

Answer 29

autonomy

Question 30

The requirements of _____ _______ for a medical or surgical procedure, or for research, are that the patient or subject (i) must be competent to understand and decide, (ii) receives a full disclosure, (iii) comprehends the disclosure, (iv) acts voluntarily, and (v) consents to the proposed action.

Answer 30

informed consent

Question 31

what type of standard?
what the patient would wish in this circumstance and not what the surrogate would wish

Answer 31

substituted judgement standard

Question 32

what type of standard?
what would bring the highest net benefit to the patient by weighing risks and benefits

Answer 32

Best interests standard

Question 33

______________ is a vital component in a physician-patient relationship; without this component, the physician loses the trust of the patient.

Answer 33

Truth telling

Question 34

The sad consequences of not telling the truth regarding a cancer include depriving the patient of an opportunity for completion of important life-tasks:

what are these tasks?

Answer 34

giving advice to, and taking leave of loved ones, putting financial affairs in order, including division of assets, reconciling with estranged family members and friends, attaining spiritual order by reflection, prayer, rituals, and religious sacraments

Question 35

_______ is generally interpreted as fair, equitable, and appropriate treatment of persons.

Answer 35

Justice

Question 36

refers to the fair, equitable, and appropriate distribution of health-care resources determined by justified norms that structure the terms of social cooperation

Answer 36

Distributive Justice

Question 37

what are the principles of distributive justice?

Answer 37

These are distribution to each person (i) an equal share, (ii) according to need, (iii) according to effort, (iv) according to contribution, (v) according to merit, and (vi) according to free-market exchanges.

Question 38

prima facie obligation

Answer 38

Each one of the 4 principles of ethics is to be taken as a prima facie obligation that must be fulfilled, unless it conflicts, in a specific instance, with another principle. When faced with such a conflict, the physician has to determine the actual obligation to the patient by examining the respective weights of the competing prima facie obligations based on both content and context.

Question 39

Beneficence has enjoyed a historical role in the traditional practice of medicine. However, giving it primacy over patient autonomy is ________ that makes a physician-patient relationship analogous to that of a father/mother to a child.

Answer 39

Paternalism

Question 40

the physician acts on grounds of beneficence (and, at times, nonmaleficence) when the patient is nonautonomous or substantially nonautonomous (e.g., cognitive dysfunction due to severe illness, depression, or drug addiction)

Answer 40

soft paternalism

Question 41

action by a physician, intended to benefit a patient, but contrary to the voluntary decision of an autonomous patient who is fully informed and competent, and is ethically indefensible

Answer 41

Hard paternalism

Question 42

a rare and extreme form of patient autonomy, that holds the view that the physician’s role is limited to providing all the medical information and the available choices for interventions and treatments while the fully informed patient selects from the available choices. n this model, the physician’s role is constrained, and does not permit the full use of his/her knowledge and skills to benefit the patient, and is tantamount to a form of patient abandonment and therefore is ethically indefensible.

Answer 42

Consumerism

Question 43

when was the concept assent developed and for what reason

Answer 43

in the 1980s to address decision-making by adolescents with cancer

Question 44

What is assent

Answer 44

Pediatric patients should participate in the decision making process commensurate with their developmental level. Their assent to medical care should be sought whenever reasonable, and parents and HCP should not exclude them without persuasive reasons.

Question 45

components of assent

Answer 45

Helping the pediatric patient achieve developmentally appropriate awareness of the condition

Telling the pediatric patient what to expect with clinical management

Assessing understanding and factors influencing response

Soliciting expression of the pediatric patient’s willingness to accept the proposed treatment

Question 46

allows patients and/or surrogates to designate desired medical interventions under applicable circumstances.

Answer 46

Advance directive (AD)

Question 47

What act requires healthcare institutions to ask anyone over the age of 18 whether they have completed an Advance Directive (AD) and if not, inform them of their right to do so.

Answer 47

The Federal Patient Self-Determination Act

Question 48

The Federal Patient Self-Determination Act
what does this require

Answer 48

requires healthcare institutions to ask anyone over the age of 18 whether they have completed an Advance Directive (AD) and if not, inform them of their right to do so.

Question 49

Provide care that benefits the patient

Answer 49

Beneficence

Question 50

Avoid harming the patient

Answer 50

Nonmaleficence

Question 51

Individuals should decide what constitutes their own best interest

Answer 51

Autonomy

Question 52

Provides services fairly without bias from factors irrelevant to the situation

Answer 52

Justice

Question 53

Beneficence

Answer 53

Provide care that benefits the patient

Question 54

Nonmaleficence

Answer 54

Avoid harming the patient

Question 55

Autonomy

Answer 55

Individuals should decide what constitutes their own best interest

Question 56

Justice

Answer 56

Provides services fairly without bias from factors irrelevant to the situation

Question 57

DNR is a form of _____ and has been renamed what?

Answer 57

Advance Directive
“Do not attempt resuscitation” or “Allow Natural Death”

Question 58

why is the term “Allow Natural Death” preferred over DNR

Answer 58

better received, has a more positive connotation, and states what will be done rather than what will not be done for the patient

Question 59

steps after refusal of care if needed to be escalated

Answer 59

Is this a communication problem? (Understanding)

Ethics Consult

legal counsel

Question 60

medical interventions that are unlikely to produce any significant benefit to the patient is called

Answer 60

Inappropriate or futile care

Question 61

what is the difference between withholding and withdrawing medical treatment

Answer 61

Withholding treatment, out of concern that withdrawing it in the future would be more difficult, risks undertreating a patient who might respond to that treatment.

Question 62

a deliberate intervention undertaken with the intention of ending a life to relieve intractable suffering

Answer 62

Euthanasia or Physician assisted suicide

Question 63

Does the American Academy of Pediatrics (AAP) support Physician assisted suicide?

Answer 63

no

Question 64

What is the Doctrine of Double effect (DDE)

Answer 64

a set of ethical criteria for evaluating the permissibility of acting when one’s otherwise legitimate act will also cause a negative effect that one would normally be obliged to avoid.

The provision of adequate sedation and analgesia to a patient, even if it hastens his death is not considered euthanasia because of the Doctrine of Double Effect (DDE)

Question 65

What is the Doctrine of double effect criteria?

Answer 65

An action having foreseen harmful effects practically inseparable from the good effect is justifiable upon satisfaction of the following: the nature of the act is itself good, or at least morally neutral

The agent intends the good effect and not the bad either as a means to the good or as an end itself

The good effect outweighs the bad effect in circumstances sufficiently grave to justify causing the bad effect and the agent exercises due diligence to minimize the harm

Question 66

T/F
Nutrition and hydration is considered a form of life-sustaining treatment when administered through a feeding tube or IV. Under appropriate circumstances it is ethically defensible to forgo or withdraw this form of therapy.

Answer 66

True
Bolick pg 48

Question 67

the HCPs obligation to prevent unauthorized access to information about a patient

Answer 67

Confidentiality

Question 68

what are the exceptions to maintaining confidentiality

Answer 68

Promote public health and safety (pediatric patient neglect and abuse, communicable diseases)

Public interest demands disclosure (dangerousness to self or others, gunshot wounds)

Question 69

a systematic investigation designed to develop or contribute to general knowledge.

Answer 69

Research

Question 70

There are more restrictions placed on Research in Pediatrics patients because they cannot provide

Answer 70

informed consent

Question 71

In general regarding research in pediatric patients, it is permissible to involve pediatric patients in research which poses _______ risk: equivalent to

Answer 71

minimal
risks encountered in daily life or during performance of routine physical or psychological exams or tests

Question 72

requirements for pediatrics to participate in research

Answer 72

The pediatric patients parents (legal guardians) must give permission

Second assent of the patient should be obtained (if age appropriate) - not required and based on developmental level. The opportunity to dissent, esp for nontherapeutic research should be made available.

third, Institutional review board panel (IRB) approval must be granted for the study to be considered

Question 73

what board must you gain approval from for pediatric patients to be a part of a research study

Answer 73

Institutional review board (IRB) panel

Question 74

a person who is younger than the age of legal competence

Answer 74

minor

Question 75

the legal age at which a person is no longer a minor

Answer 75

The age of majority

Question 76

In Alabama and Nebraska the age of majority is

Answer 76

19

Question 77

In Colorado and Mississippi what is the age of majority

Answer 77

21

Question 78

Under ____ law, a parent generally retains the right to make decisions regarding their childs healthcare

Answer 78

State

Question 79

what is Parens Patriae?

Answer 79

Common law doctrine that says the state may intervene against a childs natural parent or legal guardian who is in need o protection.

Question 80

Parens Patriae is latin for

Answer 80

Parent of the nation

Question 81

2 classes of minors

Answer 81

emancipated minor
mature minor

Question 82

a minor liberated from parental control

Answer 82

emancipated minor

Question 83

a minor who may be granted decision making authority regarding their own healthcare

Answer 83

Mature minor

Question 84

In Texas, what are the terms for age of Emancipation

Answer 84

A minor may petition for emancipation if
they are a resident of Texas
17 years of age or at least 16 if living apart from guardian or parents and is self-supporting or by marriage

Question 85

In Texas, what is the terms of Age to consent for medical treatment

Answer 85

Minors may consent to any treatment if in military or 16 years old and living apart from parents; any minor may consent to treatment for pregnancy if they are unmarried and not seeking an abortion, substance abuse, infectious diseases or if they are incarcerated

Question 86

Have all states adopted the mature minor doctrine?

Answer 86

no

Question 87

what happened in Abrahams law

Answer 87

15 yo with Hodkins disease
received first course of chemo
supposed to receive 2nd but parents and Abraham refused wanting to try Hoxsey method which was not well backed. Natural
Abrahams parents were charged with medical neglect and a social services agency sought to force Abraham to get the chemo and radiation
Ultimately cleared and the family was allowed to pursue Alternative treatments.

Virginia Legislature amended its child abuse statute in March 2007 “Abraham’s Law” allows parents and children between 14-17 years to refuse medical treatment for a life threatening condition. Prevents parents from being charged with medical neglect if the decision to refuse such treatment is made jointly by the parents and the child. The law requires that the child be sufficiently mature to have an informed opinion regarding the subject of his or her medical treatment. This caused many states to explore the concept of the mature minor doctrine

Question 88

allows parents and children between 14-17 years to refuse medical treatment for a life threatening condition. Prevents parents from being charged with medical neglect if the decision to refuse such treatment is made jointly by the parents and the child. The law requires that the child be sufficiently mature to have an informed opinion regarding the subject of his or her medical treatment.

Answer 88

Abrahams law

Question 89

what happened in Parker Jensen case

Answer 89

12 yo boy in utah (2003) was diagnosed with Ewing sarcoma. oncology recommended chemo. Parents refused and requested other options. Medical neglect filed. Court mandated chemo. Parents did not go. They left the state. Parents charged with kidnapping. Eventually dismissed.

Question 90

what happened in Schmidt v mutual hosp in 2005?

Answer 90

Medical intervention against their faith.
7 months and was reported anonymously that there were concerns
Mom was taken to hospital against consent
Pre-eclamptic and delivered early
Never signed consents
lawsuit against the hospital and refusal to pay bills
Did not have to pay for mom
had to pay babys hospital expenses. Deemed unlawful to decline

The Schmidts must pay for the medical services provided to their daughter because “A parent has a duty to provide support for his or her minor child, which includes the provision of reasonable and necessary medical services for that child.”  Scott Co. School District 1 v. Asher, 263 Ind. 47, 324 N.E.2d 496 (1975).   The parent is obligated even where the parent refused in advance to pay for such services and they were rendered in spite of the refusal to pay.  St. Mary’s Med. Ctr. v. Bromm, 661 N.E.2d 836 (Ind.Ct.App.1996).

Question 91

This principle is incorporated into both federal and state healthcare laws, requires that the child be allowed to hold and express his or her own views if capable of doing so and that the childs perspective be considered when the parents deliberate on making an informed decision

Answer 91

Self determination

Question 92

Process of self determination by which a child, having been fully informed or informed to the limits of his or her ability to understand the aspects of the decision, participates in decision making

Answer 92

Assent

Question 93

when identifying potential live donors, a sibling is a ____% match

Answer 93

25% , identical twin is best match

Question 94

a patient-and family centered care that optimizes quality of life by anticipating, preventing and treating suffering

Answer 94

Palliative care approach

Question 95

when should palliative care be implemented

Answer 95

when medical diagnosis, intervention, and treatment cannot reasonably be expected to affect the imminence of death

Question 96

elements of palliative care

Answer 96

pain management
expertise with feeding and nutritional issues at the end of life;
management of symptoms - minimizing nausea/vomiting, bowel obstruction, labored breathing fatigue

Question 97

4 basic groups of conditions needing/could benefit from palliative care

Answer 97

a cure is possible, but failure is not uncommon (ie) cancer with a poor prognosis)

Long term Treatment is provided with a goal of maintaining quality of life (ie- cystic fibrosis)

Treatment that is exclusively palliative after the diagnosis of a progressive condition is made (ie trisomy 13)

Treatments are available for severe, non-progressive disability in patients who are vulnerable to health complications (severe spastic quadriparesis with difficulty in controlling symptoms)

Question 98

principles of palliative care

Answer 98

Respect for the dignity of patients and families

Access to comprehensive and compassionate family care

Use of interdisciplinary resources

Acknowledgment and support provisions for caregivers

Commitment to quality improvement of palliative care through research and education

Question 99

a treatment program for the end of life that provides the range of palliative care services by an interdisciplinary team including specialists in the bereavement and end of life process

Answer 99

hospice care

Question 100

can children covered under Medicaid or Children’s Health Insurance Program (CHIP) have access simultaneously to hospice care and curative care

Answer 100

yes, in 2010 legislation was passed to allow this

Question 101

the process of psychologic and spiritual accommodation to death on the part of the child and the childs family

Answer 101

Bereavement

Question 102

the emotional response caused by a loss which may include pain, distress, and physical and emotional suffering

Answer 102

grief

Question 103

bereavement

Answer 103

the process of psychologic and spiritual accommodation to death on the part of the child and the childs family

Question 104

grief

Answer 104

the emotional response caused by a loss which may include pain, distress, and physical and emotional suffering

Question 105

what type of grief is recognized as being more intense and sustained than other types of grief

Answer 105

parental grief

Question 106

a pathologic manifestation of continued and disabling grief (rare)

Answer 106

Complicated grief

Question 107

what circumstances make parents who lose a child more likely to resolve their grief

Answer 107

Parents who…
1) share their problems with others during the childs illness
2) have access to psychologic support during the last month of their childs life

3) who have had closure sessions with the attending staff

Question 108

what are Piaget’s theories of cognitive development which help illustrate children’s concepts of death and disease

Answer 108

sensorimotor
preoperational
concrete operations
formal operations

Question 109

Age of Piaget’s theories of cognitive development which help illustrate children’s concepts of death and disease:

Sensorimotor - death is seen as a separation without a specific concept of death

Answer 109

up to 2 years old

Question 110

explain Age of Piaget’s theories of cognitive development which help illustrate children’s concepts of death and disease Sensorimotor

Answer 110

seen in children up to 2 years old…death is seen as a separation without a specific concept of death

Associated behaviors in grieving children of this age usually includes protesting and difficulty of attachment to other adults. The degree of difficulty depends on the availability of other nurturing people with whom the child has a good previous attachment.

Question 111

Piaget

Associated behaviors in grieving children of this age usually includes protesting and difficulty of attachment to other adults. The degree of difficulty depends on the availability of other nurturing people with whom the child has a good previous attachment.

Answer 111

Sensorimotor

Question 112

Age of Piaget’s theories of cognitive development which help illustrate children’s concepts of death and disease:

Preoperational

Answer 112

3-5 yrs old

Question 113

Preoperational is sometimes called

Answer 113

the magic years

Question 114

Explain Piaget’s Preoperational stage

Answer 114

children 3-5 yrs

have trouble grasping the meaning of the illness and the permanence of death

their language skills at this age make understanding their moods and behavior difficult

Because of developing a sense of guilt - death may be viewed as a punishment

If a child previously wished a younger sibling dead, the death may be seen psychologically as being caused by the childs wishful thinking. They can feel overwhelmed when confronted with the strong emotional reactions of their parents

Question 115

Piaget
have trouble grasping the meaning of the illness and the permanence of death

Answer 115

Preoperational

Question 116

Age of Piaget’s theories of cognitive development which help illustrate children’s concepts of death and disease:

Late preoperational to concrete operational

Answer 116

Ages 6-11 yrs

Question 117

explain Piaget Late preoperational to concrete operational stage

Answer 117

The finality of death gradually comes to be understood.

Magical thinking gives way to a need for detailed information to gain a sense of control.

Older children in this range have a strong need to control their emotions by compartmentalizing and intellectualizing

Question 118

The finality of death gradually comes to be understood.

Answer 118

Lat preoperational to concrete operational

Question 119

Age of Piaget’s theories of cognitive development which help illustrate children’s concepts of death and disease:

formal operations

Answer 119

> =12 years of age

Question 120

describe Piaget’s formal operations stage

Answer 120

death is a reality and is seen as universal and irreversible.

Adolescents handle death issues at the abstract or philosophical level and can be realistic.

They may also avoid emotional expression and information, instead of relying on anger or disdain.

Adolescents can discuss withholding treatments. Their wishes, hopes and fears should be attended to and respected.

Question 121

Piaget
death is a reality and is seen as universal and irreversible

Answer 121

formal operations

Question 122

Before speaking with a child about death, what should be assessed

Answer 122

childs :
age
experience
level of development
the childs understanding and involvement in end of life decision making

Parents:
emotional acceptance of death
coping strategies
their philosophical, spiritual and cultural views of death which can change over time

Question 123

what ethical principles are involved in the care of a dying child

Answer 123

Autonomy
Beneficence
Nonmaleficence

plus
truth telling
confidentiality
physicians duty

The most important ethical principle is what is in the best interest of the child as determined through the process of shared decision making, informed permission/consent from the parents and assent from the child.

Question 124

There is/is not a ethical or legal difference between withholding treatment and withdrawing treatment

Answer 124

is not
however, many parents and physicians see withdrawing treatment is more challenging

Question 125

The most important ethical principle

Answer 125

is what is in the best interest of the child as determined through the process of shared decision making, informed permission/consent from the parents and assent from the child.

Question 126

organ donation can occur one of two ways

Answer 126

1. after fulfilling criteria for neurological (brain) death
2. Through a process of donation after circulatory death (DCD)

Question 127

in evaluating a child with congenital malformations, a clinical geneticist attempts to identify what?

Answer 127

Etiology

Mode of inheritance

Risk that a disorder might occur in the affected child’s siblings

Question 128

5 categories of congenital malformations

Answer 128

1) single gene mutations (occurs in 6% of children with congenital anomalies)

2) Chromosomal disorders (7.5%)

3) Multifactorially inherited conditions (20%)

4) Disorders that show an unusual pattern of inheritance accounting (2-3%)

5) Conditions caused by exposure to teratogens (6%)

Question 129

DNA is composed of what 4 nucleotide building blocks

Answer 129

Adenine
Guanine
Cytosine
Thymine

Question 130

DNA molecule consists of 2 chains of nucleotides held together by ______ bonds

Answer 130

hydrogen

Question 130

DNA molecule consists of 2 chains of nucleotides held together by ______ bonds

Answer 130

hydrogen

Question 130

DNA molecule consists of 2 chains of nucleotides held together by ______ bonds

Answer 130

hydrogen

Question 130

DNA molecule consists of 2 chains of nucleotides held together by ______ bonds

Answer 130

hydrogen

Question 130

DNA molecule consists of 2 chains of nucleotides held together by ______ bonds

Answer 130

hydrogen

Question 131

Adenine and guanine are _______ nucleotides

Answer 131

Purine

Question 132

Thymine and cytosine are what type of nucleotides

Answer 132

Pyrimidines

Question 133

because of cross linking in DNA, the nucleotide sequence of one strand sets the other strands sequence. What does separating the 2 strands permit

Answer 133

complementary nucleotides to bind to each DNA strand; this copies the DNA and replicates the sequence

Question 134

DNA exists as multiple fragments that, together with a protein ____, form chromosomes

Answer 134

Skeleton (Chromatin)

Question 135

Human cells have ___ pairs of chromosomes, with one copy of each chromosome inherited from _______

Answer 135

23
each parent

Question 136

22 pairs of chromosomes are ______ and the remaining pair consists of ______

Answer 136

autosomes
sex chromosomes

Question 137

What sex chromosomes do females have and what do males have

Answer 137

Females:
2 X chromosomes
Males have one X and one Y

Question 138

Spread along the chromosomes like beads on a string, DNA sequences form _____, the basic units of heredity

Answer 138

genes

Question 139

A typical gene contains what?

Answer 139

A promoter sequence
an untranslated region and a
open reading frame

Question 140

In the open reading frame of a gene, every 3 nucleotides represent a single

Answer 140

codon

Question 141

A codon codes for

Answer 141

a particular amino acid

Question 142

The sequence of bases dictates the sequence of ___ ___ in the corresponding protein

Answer 142

amino acids

Question 143

Some codons, rather than coding for specific amino acids act as what?

Answer 143

Start signals
stop signals

Question 144

Between the start and stop codons, genes consist of 2 major portions

Answer 144

Exons- regions containing the code that ultimately corresponds to a sequence of amino acids

Introns - intervening sequence which do not become part of the amino acid sequence

Question 144

Between the start and stop codons, genes consist of 2 major portions

Answer 144

Exons- regions containing the code that ultimately corresponds to a sequence of amino acids

Introns - intervening sequence which do not become part of the amino acid sequence

Question 145

what part of gene:
regions containing the code that ultimately corresponds to a sequence of amino acids

Answer 145

Exons

Question 146

What part of gene:
intervening sequence which do not become part of the amino acid sequence

Answer 146

INtrons

Question 147

Genes are transcribed into ______then translated into _____

Answer 147

RNA (mRNA)
proteins

Question 148

During transcription, RNA is processed to remove _____. The mRNA serves as a template to ______

Answer 148

Introns
construct the protein

Question 149

Through a mechanism called _____ _______, these genes may create more than 100,000 proteins. The remainder of the DNA, the portion not involved in protein formation was once termed _____ _____but a project called ENCODE found that much of this presumed junk DNA is functional and likely serves _____ functions

Answer 149

Alternative splicing
Junk DNA
Regulatory

Question 150

Disease may be caused by _____ in the DNA sequence with the _____ ______ being the most common type

Answer 150

mutations
point mutation

Question 151

A point mutation that changes a codon and the resulting amino acid that goes into the protein is referred to as a _____ _______

Answer 151

missense mutation

Question 152

A point mutation that changes the codon to a stop signal so that transcription ends prematurely

Answer 152

nonsense mutation

Question 153

A ____ _____ often stems from the loss of addition of one or more bases; this causes a shift in how the DNA is transcribed and generally leads to premature stop codons

Answer 153

frameshift mutation

Question 154

To identify patterns of inheritance, geneticists construct and analyze

Answer 154

pedigrees (pictorial representations of a family history)

Question 155

Pictorial representation of a family history

Answer 155

Pedigree

Question 156

In a pedigree
what are all of the symbols

Answer 156

Males - squares
Females- circles
Matings - connected by solid line between each partners symbol
Children from a couple are represented below their parents (which is next generation)

Affected individuals are indicated by shading or some other technique indicated in key

Carriers of disorder are indicated by a dot in the center of their symbol

Proband (patient who is the initial contact) - arrow

Grandparents, uncles, aunts and cousins are added in similar fashion. Ages or birthdays may be written next to or under each symbol

Question 157

what is the proband on a pedigree drawing

Answer 157

the patient who is the initial contact

Question 158

To be useful, pedigrees should include representatives of at lease ______ generations of family members

Answer 158

3

Question 159

on a pedigree
a solid line between symbols

Answer 159

mating

Question 160

on a pedigree,
a dot in the center of their symbol indicates

Answer 160

they are a carrier

Question 161

what type of disorder?
a single copy of a gene bearing a mutation is sufficient to cause disease and that gene is not on one of the sex chromosomes

Answer 161

autosomal dominant (AD) disorder

Question 162

in autosomal dominant disorders, each child of an affected parent has a ____% chance of inheriting the mutated gene.

Answer 162

50%

Question 163

Possessing one working gene and one nonworking gene is termed _______

Answer 163

Heterozygous

Question 164

Possessing either two working genes or two nonworking genes, this is termed

Answer 164

Homozygous

Question 165

Some people who are obligate carriers of a mutation known to cause a AD disorder do not show clinical signs of the condition, while other such individuals manifest symptoms. This phenomenon is referred to as _______

Answer 165

penetrance

Question 166

If all individuals who carry a mutation for an Autosomal dominant disorder show signs of the disorder, the gene is said to have

Answer 166

complete penetrance

Question 167

what type of disorder?
Neurofibromatosis

Answer 167

Autosomal Dominant

Question 168

what type of disorder?
Huntington disease

Answer 168

Autosomal Dominant

Question 169

What type of disorder?
Marfan syndrome

Answer 169

Autosomal Dominant

Question 170

rules of Autosomal dominant inheritance

Answer 170

1) Trait appears in every generation

2) Each child of an affected parent has a one in two chance of being affected

3) Males and females are equally affected

4) Male to Male transmission occurs

5) Traits generally involve mutations in genes that code for regulatory or structural proteins (collagen)

Question 171

explain variable expressivity

Answer 171

Often AD disorders show variability in symptoms expressed in different individuals carrying the same mutated gene

Question 172

AD disorders sometimes appear in a child of unaffected parents because of a ______ _____

Answer 172

spontaneous mutation

Question 173

Most common skeletal dysplasia in humans (Autosomal dominant disease)

Answer 173

Achondroplasia (ACH)

Question 173

Most common skeletal dysplasia in humans (Autosomal dominant disease)

Answer 173

Achondroplasia (ACH)

Question 173

Most common skeletal dysplasia in humans (Autosomal dominant disease)

Answer 173

Achondroplasia (ACH)

Question 173

Most common skeletal dysplasia in humans (Autosomal dominant disease)

Answer 173

Achondroplasia (ACH)

Question 173

Most common skeletal dysplasia in humans (Autosomal dominant disease)

Answer 173

Achondroplasia (ACH)

Question 174

Achondroplasia (ACH) is caused by a defect in _____ which stems from a mutation in _______

Answer 174

Cartilage-derived bone
FGFR3

Question 175

In Achondroplasia (ACH) the bony abnormalities lead to

Answer 175

short stature
macrocephaly
a flat midface with a prominent forehead
Rhizomelic (“root of the limb”) shortening of the limbs

Question 176

Concerns as kids with Achondroplasia (ACH) grow

Answer 176

Hydrocephalus
Central apnea
Bowing of legs
Dental malocclusion
Obstructive apnea
hearing loss
sciatica

normal life spans and
normal intelligence

Question 177

One of the most common Autosomal dominant disorders

Answer 177

Neurofibromatosis Type 1

Question 178

Neurofibromatosis type 1 is caused by a mutation in the ____ gene, which codes for the protein ________

Answer 178

NF1
Neurofibromin

Question 179

An Autosomal dominant disease that shows pleiotropy (a condition in which abnormalities in multiple organ systems are caused by mutation in a single gene) - mainly cardiac, ophthalmological and skeletal

mutation in FBN1

Answer 179

Marfan syndrome

Question 180

Findings in Marfan syndrome

Answer 180

Dolichostenomelia (tall, thin body habitus, spider like fingers and toes (arachnodactyly)

Abnormalities of sternum (pectus excavatum or carinatum)

Scoliosis
pes planus
joint laxity

High myopia - can lead to vitreoretinal degeneration
cataracts

dilation of aortic root
aortic insufficiency followed by aortic dissection

Question 181

Mutation in FBN1

Answer 181

Marfan Syndrome

Question 182

When do disorders that are inherited in an autosomal recessive (AR) manner manifest?

Answer 182

only when both copies of a gene pair located on a non-sex chromosome have a mutation

Question 183

Children affected with AR (autosomal recessive) disorders are usually born to

Answer 183

unaffected parents, each of whom carries one copy of the mutation

Question 184

If both parents are heterozygotes for a mutation, each of their offspring have a ___-% chance of being affected with a Autosomal recessive disorder

Answer 184

25%

Question 185

what type of a genetic disorder is Sickle cell disease

Answer 185

Autosomal recessive

Question 186

What type of a genetic disorder is tay sachs disease

Answer 186

Autosomal Recessive

Question 187

Approximately _____ genes have been identified on the X chromosome, whereas only ____ are believed to be present on the Y chromosome

Answer 187

2,000
200

Question 188

Early in female development, one x chromosome is randomly inactivated in each cell. There are many x-linked disorders (colorblindness, Duchenne muscular dystrophy, hemophilia A) in which heterozygous (carrier) females show some manifestations of the disorder due to

Answer 188

skewed X chromosome inactivation.

Question 189

most disorders involving the X chromosome show ______ inheritance

Answer 189

recessive

Question 190

explain x linked recessive inheritance

whose most likely to manifest these diseases?

Answer 190

With only one copy of the x chromosome, males are more likely to manifest these diseases than females.

Question 191

Each son born to a female carrier of an X linked recessive trait has a _____% chance of inheriting the trait. Each daughter has a _____% chance

Answer 191

50%
none of the daughters would be affected. Daughters would have a 50% chance to be a carrier

Question 192

A affected father of an X linked recessive disorder
transmits the mutation to ____% of his daughters and _____% of his sons

Answer 192

all of his daughters
none of his sons
having received their fathers Y chromosome, they would not be affected (thus there is no male to male transmission)

Question 193

What type of genetic disorder is Duchenne muscular dystrophy

Answer 193

X linked recessive

Question 194

what type of genetic disorder is Hemophilia A

Answer 194

X linked recessive

Question 195

Rules of Autosomal Recessive inheritance

Answer 195

1) Trait appears in siblings, not in their parents or their offspring

2) On average, 25% of siblings of the proband are affected (at the time of conception, each sibling has a 25% chance of being affected)

3) A normal sibling of an affected individual has a 2/3rds chance of being a carrier (heterozygote)

4) Males and females are likely to be affected equally

5) Rare traits are likely to be associated with parental consanguinity

6) Traits generally involve mutations in genes that code for enzymes and are associated with serious illness and shortened lifespan

Question 196

Congenital Adrenal hyperplasia (CAH) is what type of genetic disorder

Answer 196

Autosomal recessive

Question 197

PKU is what type of genetic disorder

Answer 197

Autosomal Recessive

Question 198

Cystic fibrosis is what type of genetic disorder

Answer 198

Autosomal Recessive

Question 199

Gender affected in X linked dominant inherited diseases

Answer 199

Both males and females are affected but females have less severe symptoms due to X chromosome inactivation

Question 200

a disorder in which the kidneys ability to reabsorb phosphate is impaired

Answer 200

X linked vitamin D-resistant rickets (hypophosphatemic rickets) - X linked dominant

Phosphate levels and resulting rickets are not as severe in females as in males

Question 201

Incontinentia pigmenti is caused by a mutation in the

Answer 201

NEMO or IKBKG gene

Question 202

characteristic swirling pattern of hyperpigmentation that develops after a perinatal skin rash with blistering

Answer 202

Incontinentia Pigmenti

Question 203

Prognosis of affected males in Incontinentia Pigmenti

Answer 203

death occurs before birth
Affected mothers can have affected or normal daughters but only normal sons. All affected sons die before birth

Question 204

Females affected by Incontinentia Pigmenti have variable involvement of

Answer 204

the CNS,
Hair
nails
teeth
eyes

Question 205

Rett syndrome is caused by mutations in what gene

Answer 205

MECP2

Question 206

Rett syndrome is what type of genetic disorder

Answer 206

X linked dominant

Question 207

in this genetic disorder, females are normal at birth but later in the first year of life develop microcephaly, developmental regression and often a seizure disorder

Answer 207

Rett syndrome

Question 208

Signs/symptoms of Rett syndrome

Answer 208

females are normal at birth but later in the first year of life develop microcephaly, developmental regression and often a seizure disorder

Girls are often diagnosed with autism, and by 2 yrs of age, adopt a handwashing posture that causes them to lose all purposeful hand movements

Question 209

Girls are often diagnosed with autism, and by 2 yrs of age, adopt a handwashing posture that causes them to lose all purposeful hand movements

Answer 209

Rett syndrome

Question 210

multifactorially inherited disorders result from the interplay of genetic and environmental factors

Answer 210

polygenic inheritance

Question 211

Rules of X linked recessive inheritance

Answer 211

1) Incidence of the trait is higher in males than in females

2) Trait is passed from carrier females, who may show mild expression of the gene, to half of their sons, who are more severely affected

3) Each son of a carrier female has a one in 2 chance of being affected

4) Trait is transmitted from affected males to all of their daughters, it is never transmitted father to son

5) Because the trait can be passed through multiple carrier females, it may skip generations

Question 212

hypertrophic pyloric stenosis (HPS) is five times more likely to occur in ____ than _____

Answer 212

males
females

Question 213

does an affected male in Hypertrophic Pyloric stenosis in adulthood have an increased chance of having an affected child

Answer 213

yes, markedly increased over the general population

Question 214

The occurrence of neural tube defects in the United States are more likely to be born during what season?

Answer 214

During late fall and early winter, suggesting an environmental component or a folate responsive gene effect

Question 215

Periconceptual supplementation with folic acid has significantly lowered the risk of having an infant with an Neural tube defect. This nutritional influence suggests an _____ component.

Parents who have one child with an Neural tube defect are 20-40xs more likely to have a second affected child, this provides further evidence of a ______ component

Answer 215

environmental
genetic

Question 216

A woman with a mutation in her mtDNA passes this mutation to ____% of her children

Answer 216

100

Question 217

More than one population of mitochondria may be present in the oocyte which is a phenomenon called ______

Answer 217

heteroplasmy

Question 218

The mtDNA mutation may be present in a few or many mitochondria. When the fertilized egg divides, mitochondria or distributed randomly. The presence of symptoms in the offspring and their severity depends on what factors

Answer 218

The ratio of mutant to wild-type mrDNA present in a particular tissue.

If an abundant of mutant mitochondria exists in tissue that has high energy requirements (brain, muscle, liver), clinical symptoms occur

Question 219

normal in early childhood, individuals with ________ develop episodic vomiting
seizures
recurrent cerebral insults that resembles strokes between 5-10 yrs of age

Answer 219

Mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS)

Question 220

in 80%of MELAS cases, what gene mutation

Answer 220

(A3242G) in MTTL1

Question 221

in families which MELAS occurs, a range of symptoms is seen in 1st degree relatives including

Answer 221

progressive external ophthalmoplegia
hearing loss
cardiomyopathy
diabetes mellitus

Question 222

evaluation of a child with uniparental disomy (UPD) reveals a _______ karyotype

Answer 222

normal
However, chromosomal markers for one particular chromosome are identical to the markers found of the patients mother or father (but not both which would be normal)

Question 223

what happens in uniparental disomy (UPD)

Answer 223

the individual inherits 2 copies of one parents chromosome and no copy from the other parent. The most common cause is from a spontaneous rescue mechanism. At the time of conception, through nondisjunction, the fertilized egg is trisomic for a particular chromosome, with 2 copies of one parents chromosome and one copy of the other parents; conceptuses with trisomy often miscarry early in development. Fetuses with UPD survive bc they spontaneously lose one of 3 copies of the affected chromosome. If the single chromosome from one parent is lost the patient has UPD.

Can also involve monosomy for a chromosome rather than trisomy. Had the conceptus, at the time of conception, inherited only a single copy of a chromosome, spontaneous duplication of the single chromosome would lead to UPD.

Question 224

characterized by neonatal hypotonia, postnatal growth delay and a characteristic appearance
-almond-shaped eyes
-small hands and feet
-developmental disability
-hypogonadotropic hypogonadism
-obesity after infancy

Early in life, affected infants are so hypotonic that they cannot consume enough calories to maintain their weight needing NG feedings

Answer 224

Prader-Willi syndrome (PWS)

Question 225

In Prader-Willi Syndrome (PWS) during the first year of life what happens to the muscle tone

Answer 225

improves and children develop a voracious appetite resultant in obesity

Question 226

what syndrome do you see a child go from FTT to obesity

Answer 226

Prader-Willi Syndrome (PWS)

Question 227

Between 60% to 70% of individuals with Prader-Willi syndrome have what chromosomal abnormality

Answer 227

a small deletion of chromosome 15(15q11)

in individuals without a deletion, 20% have UPD of chromosome 15

Question 228

a condition with moderate to severe intellectual disability
absence of speech
ataxic movements of arms and legs
characteristic craniofacial appearance
seizure disorder that is characterized by inappropriate laughter

Answer 228

Angelman syndrome

Question 229

what genetic syndrome has a seizure disorder that is characterized by inappropriate laughter

Answer 229

Angelman syndrome (AS)

Question 230

Angelman syndrome (AS) is characterized by a deletion in the ______ region in 70% of affected individuals; UPD for chromosome _____ in approx 10% of patients

Answer 230

15q11
15

Question 231

If the deletion occurs in paternal chromosome 15, the affected individual will/will not develop PWS, whereas Angelman syndrome results from a deletion occurring

Answer 231

Will
only in the maternal chromosome 15

nelson pg 176

Question 232

When UPD is responsible, _______ UPD results in PWS, whereas _____ UPD results in Angelman syndrome

Answer 232

Maternal -> PWS
Paternal -> AS

Question 233

If a copy of paternal chromosome _____ is lacking, PWS occurs; if maternal chromosome _____ is lacking, AS occurs

Answer 233

15q11.2

Question 234

an epigenetic phenomenon, a nonheritable change in the DNA that causes an alteration in gene expression based on parental origin of the gene

Answer 234

Genomic imprinting

Question 235

PWS(Prader-willi) is caused by deficiency of the protein product of the gene _____

Answer 235

SNRPN (small nuclear ribonucleoprotein)

Question 236

SNRPN (expressed only in paternal derived chromosome) is associated with

Answer 236

Prader-Willi Syndrome

Question 237

UBE3A (expressed only in maternally derived chromosome 15) is associated with

Answer 237

Angelman syndrome

Question 238

Fragile X syndrome (FRAX)
Huntington Disease
Myotonic dystrophy
Friedreich ataxia
Spinocerebellar ataxias

These disorders are caused by?

Answer 238

expansion of trinucleotide repeats

Question 239

the most common cause of inherited intellectual disability

Answer 239

Fragile X Syndrome (FRAX)

Question 240

Fragile X features

Answer 240

craniofacial findings (large head, prominent forehead, jaw and ears)

macroorchidism with testicular volume twice normal in adulthood

mild connective tissue disorder
-joint laxity
-patulous eustachian tubes
-mitral valve prolapse

Neurobehavioral profile
-intellectual disability (ranging from mild to profound)
-autism spectrum disorders

Question 241

In Fragile X
what is the difference in carriers (Unaffected individuals), premutation carriers and affected considered to have full mutation

Answer 241

Unaffected who have no fam history
Have 0-45 CGG repeats (most have 25-35)

premutation carriers
have 56-200 repeats - these have typical development

Full mutation
number of repeats is >200

Question 242

Fragile X

Positional cloning in the _____ region identified a triplet repeat region composed of what?

These repeats occur in the promoter region of the gene _____

Answer 242

Xq27
one Cytosine and two guanine (CGG)
FMR1

Question 243

FRAX (fragile x) results from a failure to express

Answer 243

FMRP - the protein product of the FMR1 gene which is expressed primarily in the CNS and testes during early embryonic development

Question 244

explain FMRP in pt affected by Fragile x

Answer 244

FMRP is produced in unaffected and premutation carriers

in those with the full mutation -> FMRP transcription of the protein is blocked because the large number of CGG repeats become methylated (epigenetic phenomenon) and FRAX occurs as a consequence of loss-of-function mutation (the failure of expression of FMRP because of methylation of the promoter sequence)

Question 245

In fragile X -
In female premutation carriers, an expansion in the number of repeats from the premutation to the full mutation range may occur during

Answer 245

gametogenesis
The cause of this expansion is not understood

Question 246

In fragile x
Although premutation carriers do not show symptoms and signs of Fragile X,
women may manifest what?
men and women may manifest

Answer 246

primary ovarian insufficiency and early menopause

men and women may develop a movement disorder known as fragile x tremor/ataxia syndrome later in life

Question 247

chemical, physical or biologic agents that have the potential to damage embryonic tissue and result in congenital malformations

Answer 247

Teratogens

Question 248

agents known to be teratogenic

Answer 248

drugs (prescription and nonprescription)
Intrauterine infections (Rubella)
maternal diseases such as Diabetes mellitus
environmental like alcohol and heavy metals

Question 249

first maternal infection known to cause a pattern of malformations in fetuses affected in utero

Answer 249

Rubella

Question 250

Maternal infections known to cause a pattern of malformations in fetuses affected in utero

Answer 250

Rubella
cytomegalovirus
Toxoplasma gondii
Herpes simplex
zika virus
varicella

Question 251

maternal disease that can be teratogenic

Answer 251

Diabetes mellitus
maternal phenylketonuria (PKU)

strict control of these diseases during pregnancy protects the developing child

Question 252

most common teratogenic syndrome

Answer 252

fetal alcohol spectrum disorder

Question 253

features of fetal alcohol spectrum disorder

Answer 253

prenatal and postnatal growth deficiency
developmental disabilities
microcephaly
skeletal abnormalities
cardiac abnormalities
characteristic facial appearance

Question 254

To cause the full blown fetal alcohol syndrome, pregnant women must drink

Answer 254

throughout the pregnancy
lesser consumption during all or part of the gestation will lead to milder symptoms

Question 255

Medications mentioned in Nelson that are Teratogenic agents

Answer 255

Warfarin
Retinoic acid
Phenytoin

Question 256

High dose radiation exposure during pregnancy in Hiroshima and Nagasaki Japan was shown to increase the rate of

Answer 256

spontaneous abortion and result in children born with microcephaly, mental retardation and skeletal malformations

Question 257

individuals who are referred to a geneticist bc of suspicion of a genetic disorder are called

Answer 257

probands

Question 258

Individuals who come for genetic counseling are called

Answer 258

consultants

Question 259

increases the likelihood that offspring may be born with a rare autosomal recessive condition

Answer 259

consanguinity- both parents may be carriers of the same mutated gene

generally the closer the relation between the partners, the greater the chance

Question 260

Consanguinity increases risk of ______ disorder

Answer 260

Autosomal recessive disorder

Question 261

The risk of first cousins having a child with an AR disorder is 1 in ___

Answer 261

64

Question 262

It is common for couples to be ______ for disorders that may occur more commonly in their particular ethnic group

Answer 262

screened

Question 263

People of _____ ethnic background may wish to be screened for cystic fibrosis

Answer 263

Ashkenazi Jewish background

Question 264

People whose ancestors originated in _________ may be screened for thalassemia

Answer 264

Mediterranean basin

Question 265

People of what ethnic group may wish to be screened for SCD

Answer 265

African ancestry

Question 266

elevated maternal serum alpha-fetoprotein (MS AFP) is used to identify pregnancies in which the fetus was affected with?

Answer 266

neural tube defects
omphalocele
gastroschisis

Question 267

low levels of maternal serum alpha-fetoprotein (MS AFP) is used to identify pregnancies in which the fetus was affected with?

Answer 267

Approx 50% of fetuses with autosomal trisomies (down syndrome, trisomy 18, trisomy 13) can be detected by low levels of MS AFP

Question 268

quad screen

Answer 268

each associated with varying degrees of fetal aneuploidy. Used to detect autosomal trisomies (down syndrome, trisomy 18, trisomy 13)

using this biochemical profile - detect 80%

MS AFP
Unconjugated estriol (uE3)
inhibin A
Human chorionic gonadotropin (HCG)

Question 269

when is the quad screen performed

Answer 269

during the second trimester

Question 270

during the first trimester, what is used as a marker for aneuploidy

Answer 270

measurement of the fetal nuchal fold by sonogram

increase in nuchal thickness is a marker for fetal chromosomal anomalies but for certain genetic and structural abnormalities as well

Question 271

aneuploidy

Answer 271

the condition of having an abnormal number of chromosomes in a haploid set.

Question 272

what serum testing is done in the first trimester

Answer 272

Free B-HCG and PAPP-A (pregnancy associated plasma protein) -the addition of these screenings has enhanced first trimester screening to a detection rate of almost 90%

Question 273

do screening tests during first and second trimester diagnose problems?

Answer 273

no, they are used to identify individuals at increased risk.

Question 274

in prenatal genetic testing - Fetal cells are usually tested for

Answer 274

chromosomal abnormalities by cytogenic techniques but the use of chromosomal microarray is becoming more common

Question 275

Biochemical testing is used for known family history of

Answer 275

an inherited metabolic disorder

Question 276

Molecular screening is used for known

Answer 276

familial mutations

Question 277

advantage of testing cell free fetal DNA in maternal blood

Answer 277

its noninvasive as opposed to an amniocentesis or CVS (chorionic villus sampling)

Question 278

TORCH is to help remember

Answer 278

chronic conditions may expose fetus to teratogenic effects
Toxoplasmosis
Other including syphilis, varicella and zika virus, mumps,
parvovirus and HIV
Rubella
Cytomegalovirus
HSV

Question 279

what does a pedigree hep visualize

Answer 279

various inheritance patterns

Question 280

When evaluating an affected child from genetics….if parents are unaffected, the childs condition is most likely the result of a new mutation, in which case, the risk of recurrence is

Answer 280

extremely low

Question 281

When evaluating an affected child in genetics, when one parent is affected, the recurrence risk rises to ____% for each subsequent pregnancy

Answer 281

50%

Question 282

With x linked disorders, genetic history is focused on the paternal or maternal side

Answer 282

maternal to determine if there is a significant enough risk to warrant testing

Question 283

Questions about the couples age are important to ascertain the risk related to maternal age for ________ abnormalities and paternal age for __________

Answer 283

chromosomal
new mutations leading to AD and X-linked disorders

Question 284

A history of more than 2 spontaneous abortions increases the risk that one of the parents carries a

Answer 284

balanced translocation and the spontaneous abortions are due to chromosomal abnormalities in the fetus

Question 285

children with______ disorders may have a normal period followed by increasing weakness or ataxia

Answer 285

neuromuscular

Question 286

Children with lysosomal storage diseases, such as mucopolysacharidoses often have recurrent _____ and can develop ___-

Answer 286

ear infections
sleep apnea

Question 287

Children with inborn error of metabolism who have intermittent symptoms often have a history of

Answer 287

multiple hospitalizations for dehydration or vomiting

Question 288

many inborn errors of metabolism, including storage disorders cause ________ manifestations after a period of normal development

Answer 288

developmental

Question 289

In pediatrics, what can be used for chromosome analysis

Answer 289

lymphocytes from peripheral blood
cells from bone marrow aspiration
skin biopsy cells (fibroblasts)
or prenatally from amniotic fluid or chorionic villi

Question 290

process to prep cells for chromosome analysis

Answer 290

cells placed in culture medium
stimulated to grow using a mitogen
their division is arrested in either metaphase or prophase using a spindle poison
slides are made
chromosomes are stained with Giemsa or other dyes
Chromosomes are examined and analyzed under microscope

Question 291

What phase are chromosomes short, squat and easy to count

Answer 291

Metaphase

Question 292

Metaphase chromosome analysis should be ordered in children whose features suggest

Answer 292

a known aneuploidy syndrome such as trisomy or monosomy

Question 293

Chromosomes analyzed in ______ are long, thin and drawn out, giving far more details than are seen in ______ preparations

Answer 293

Prophase
metaphase

Question 294

_______chromosomal analysis is ordered in individuals with multiple congenital anomalies without an obvious disorder

Answer 294

Prophase

Question 295

allows the identification of the presence or absence of a specific region of DNA

Answer 295

Fluorescent In Situ Hybridization (FISH)

Question 296

what lab eval is helpful in Prader-Willi syndrome and Angelman syndrome and Williams and DiGeorge syndrome bc it allows the number of copies of DNA segment in question to be counted…looking for deletions of segments or duplications

Answer 296

Fluorescent In Situ Hybridization (FISH)

Question 297

has essentially replaced prophase analysis in cases in which a subtle copy number variant (chromosomal deletion or duplication) is suspected

Answer 297

Microarray comparative genomic hybridization (array CGH)

Question 298

DNA from the individual being studied and a normal control are labeled with fluorescent markers and hybridized to thousands of FISH like probes for sequences spread around the genome. The probes are derived from known genes and noncoding regions. By analyzing the ratio of density of the fluorescent marker at each site, it is possible to determine whether the individual has any difference in copy number compared with control number

Answer 298

Microarray comparative Genomic hybridization

Question 299

This analysis allows identification of mutations in a growing number of genetic disorders. Using polymerase chain reactions, the specific gene in question can be amplified and analyzed

Answer 299

Direct DNA analysis

Question 300

This lab evaluation permits examination of all 20,000 -21,000 genes that compose the genome by isolating DNA from an individual, looking for variations in the exomes or coding sequences of the genes and compares identified variation with the DNA from the individuals parents

Answer 300

whole exome sequencing

Question 301

In whole exome sequencing, variation found in the subject that is not present in either parent suggests

Answer 301

a spontaneous mutation

Question 302

In whole exome sequencing, 2 copies of a mutation in an individual whose parents are each found to be carriers of the mutation suggests that

Answer 302

the subject is affected with an autosomal recessively inherited disorder

Question 303

what are the shortcomings in whole exome sequencing

Answer 303

expensive
interpretation is complicated as thousands of variations are often identified -> vast majority of which are benign

Question 304

how often does the American Academy of Pediatrics recommends routine office visits

Answer 304

first week of life
at 2 weeks
1 mth
2 mth
4 mths
6 months
9 months
12 months
15 months
18 months
2 yrs
2 1/2 yrs
3 years
and then annually through adolescence/young adulthood

Question 305

when caloric intake is inadequate, what percentile drops first on charts

Answer 305

weight percentiles fall first, then height, head circumference is last

Question 306

caloric intake may also be inadequate due to

Answer 306

increased caloric needs such as chronic illness

Question 307

rules of thumb for weight
wight loss in first few days of life

Answer 307

5-10% of birthweight

Question 308

rules of thumb for weight
return to birthweight

Answer 308

7-10 days of age

Question 309

rules of thumb for weight
double birthweight

Answer 309

4-5 months

Question 310

rules of thumb for weight
triple birthweight

Answer 310

1 year

Question 311

rules of thumb for weight
daily weight gain

Answer 311

20-30g for the first 3-4 months
15-20g for the rest of the first year

Question 312

rules of thumb for height

Answer 312

average length: 20in at birth, 30 in at 1 year
at age 4 yrs, the average child is double birth length or 40 in

Question 313

rules of thumb for head circumference

Answer 313

Average HC: 35 cm at birth (13.5in)
HC increases: 1 cm per month for the first yr (2cm per month for the first 3 months, then slower)

Question 314

a increasing weight percentile in the face of a falling height percentile suggests

Answer 314

hypothyroidism

Question 315

when may head circumference be disproportionately large

Answer 315

familial megalocephaly
hydrocephalus
merely catch-up growth in a neurologically normal premature infant

Question 316

A child is considered microcephalic if the head circumference is <

Answer 316

3rd percentile - even if length and wt measurements are proportionately low

Question 317

Serial measurements of head circumference are crucial during infancy and should be plotted regularly until ______

Answer 317

2 yrs

Question 318

errors that occur in meiosis during the production of gametes can lead to abnormalities of chromosome ______ or ______

Answer 318

structure or number

Question 319

Syndromes caused by chromosomal abnormalities

Answer 319

Trisomy 21
Trisomy 13
Trisomy 18
Turner syndrome
Klinefelter syndrome
as well as other rarer chromosomal duplications, deletions or inversions

Question 320

most common chromosomal abnormality that causes spontaneous abortions

Answer 320

45,X (TS)

Question 321

general features that suggest an chromosome anomaly

Answer 321

low birth weight (small for gestational age)
failure to thrive
developmental disability
presence of 3 or more congenital malformations

Question 322

During meiosis or mitosis, failure of a chromosomal pair to separate properly results in ___________

Answer 322

nondisjunction

Question 323

a change in the number of chromosomes that results in nondisjunction

Answer 323

Aneuploidy

Question 324

A cell that has one copy of a particular chromosome

Answer 324

monosomy

Question 325

A cell that has 3 copies of a particular chromosome

Answer 325

trisomy

Question 326

most common abnormality of chromosomal number in liveborn infants

Answer 326

Down syndrome (trisomy 21)

Question 327

what is the cytogenic nomenclature for trisomy 21

Answer 327

47, XX, +21
47, XY, +21

Question 328

The most common robertsonian translocation leading to DS involves chromosomes

Answer 328

14 and 21

Question 329

46, XX, t(14q21q)
46, XY, t(14q21q)

Answer 329

Robertsonian Translocation leading to DS

Question 330

The parents of infants with DS who have translocations should have a

Answer 330

karyotype to exclude a balanced translocation

Question 331

These individuals have 2 populations of cells, one with trisomy 21 with a normal chromosome complement

Answer 331

Mosaicism

Question 332

Mosaicism DS results from either

Answer 332

nondisjunctional event after fertilization or
Trisomic rescue

Question 333

47,XX, +21/46XX
47, XY,+21/46/XY

Answer 333

Mosaic DS

Question 334

Characteristics of DS features at birth

Answer 334

normal birth weight and length
Hypotonic - may cause feeding problems and decreased activity
characteristic facial appearance
-Brachycephaly
-flattened occiput
-hypoplastic midface
-flattened nasal bridge
-upslanting palpebral fissures
-epicanthal folds
-large protruding tongue
short broad hands often with a single transverse palmar crease
Wide gap between first and second toes

Question 335

Problems associated with DS

Answer 335

Almost all have intellectual disability discovered as they get older

Half have congenital heart disease
-AV canal
Ventriculoseptal or atrioseptal defects
Valvular disease

3-5% with Gastrointestinal tract anomalies
most common are
Duodenal atresia
annular pancreas
imperforate anus

4-18% congenital hypothyroidism (part of newborn screen)
(Acquired hypothyroidism later in life is more common)

Polycythemia at birth (HCT >70%) is common and may require treatment

Some infants at birth may show a leukemoid reaction - markedly increased WBC - self resolves over the first month
but they also have increased risk of leukemia

Question 336

Children with DS < 2yrs are at increased risk for what type of leukemia

Answer 336

Acute megakaryoblastic leukemia

Question 337

Children with DS older than 3 yrs what type of leukemia are they at highest risk for

Answer 337

Acute lymphoblastic leukemia (ALL)

Question 338

heart defects common in DS

Answer 338

congenital heart disease
AV canal
VSD
ASD
Valvular disease

Question 339

3 most common GI anomalies seen in DS

Answer 339

Duodenal atresia
annular pancreas
imperforate anus

Question 340

Kids with DS are more susceptible to

Answer 340

infection
more likely to develop cataracts
5-10% have atlantoaxial instability -> increased distance between first and second cervical vertebrae that may predispose to spinal cord injury

Many >35 years develop Alzheimer like features

Question 341

Virtually all cases of Trisomy 18 are due to

Answer 341

nondisjunction

Question 342

More than 95% of conceptuses with trisomy ___ are lost as spontaneous abortuses in the first trimester

Answer 342

95%

Question 343

In Trisomy 18, _____ are more likely to survive to term than ____

Answer 343

females
males

Question 344

Outcomes of Trisomy 18

Answer 344

most end in spontaneous abortion
Females more likely to survive to term 4:1 ratio
infants rarely survive
<10% will reach their first birthdays

Question 345

Clinical features of Trisomy 18

Answer 345

hypertonia
prominent occiput
micrognathia
low set and malformed ears
short sternum
rocker bottom feet
hypoplastic nails
characteristic clenching of fists: the second and fifth digits overlap the third and 4 th digits

Question 346

(47, XX, +18)
(47, XY, +18)

Answer 346

Trisomy 18

Question 347

(47, XX, +13)
(47, XX, +13)

Answer 347

Trisomy 13

Question 348

Prognosis of Trisomy 13

Answer 348

usually fatal in first year of life with only 8.6% of infants surviving beyond 1st bday

Question 349

Trisomy 13 can be caused from

Answer 349

nondisjunction (75%)
robertsonian translocation with most common involving chromosome 13 and 14

Question 350

characteristics of Trisomy 13

Answer 350

small for gestational age
microcephalic
midline facial defects such as cyclopia (single orbit)
cebocephaly (single nostril)
cleft lip and palate
midline central nervous system anomalies
-alobar holopresencephaly
forehead sloping
ears are often small and malformed
microphthalmia or anophthalmia
Postaxial polydactyly of hands is common
clubfeet or rocker bottom feet
hypospadias
cryptorchidism common in boys
girl have hypoplasia of labia minora

most infants have congenital heart desease
most have a punched out scalp lesion over the occiput called aplasia cutis congenita

Question 351

characteristics that are pathopneumonic for trisomy 13

Answer 351

punched out scalp lesion over the occiput called aplasia cutis congenita

polydactyly
and some or all of the facial features
midline facial defects such as cyclopia (single orbit)
cebocephaly (single nostril)
cleft lip and palate

Question 352

most common cause of hypogonadism and infertility iin men

Answer 352

Klinefelter Syndrome

Question 353

why does Klinefelter syndrome sometimes go undetected until adolescence

Answer 353

phenotypically indistinguishable from rest of population before puberty

under androgenation, in the presence of testes that remain infantile in volume should alert the physician

Question 354

Characteristics of Klinefelter syndrome

Answer 354

testes that remain infantile in adolescence
tend to be tall with long limbs
During adolescence or adulthood may develop gynecomastia

because of growth failure of testes, hypergonadotropic hypogonadism and failure to produce viable sperm

low production of testicular testosterone results in failure to develop later secondary sexual characteristics such as facial hair, deepening of voice and libido.

in adulthood osteopenia and osteoporosis develop

Question 355

Klinefelter syndrome will need ______ supplmentation

Answer 355

Testosterone

Question 356

future of having children in Klinefelter syndrome

Answer 356

with microdissection testicular sperm extraction and in vitro they can father children. Offspring have a normal chromosome complement

Question 357

only condition where a monosomic conceptus survives to term

Answer 357

Turner syndrome
however, 99% of embryos with 45,X are spontaneously aborted

Question 358

Women affected with Turner syndrome….what is their intelligence and life expectancy

Answer 358

typical intelligence
normal life expectancy

Question 359

features of Females with Turner syndrome

Answer 359

short stature
low set mildly malformed ears
triangular face
flattened nasal bridge and epicanthal folds
webbing of the neck
+/- cystic hygroma
shield like chest with widened internipple distance
puffiness of hands and feet

Question 360

internal malformations of Turner syndrome

Answer 360

congenital heart
-coarctation of aorta is most common
-bicuspid aortic valve
later in life poststenotic aortic dilation with aneurysm may develop

Renal anomalies
horseshoe kidney

streak gonads (gonadal dysgenesis) instead of well developed ovaries leads to estrogen deficiency which prevents from secondary sex characteristics results in amenorrhea

10% have normal pubertal development and are even fertile

most women will need estrogen replacement to complete secondary development

Question 361

women with turner syndrome are at high risk for

Answer 361

congenital hypothyroidism

Question 362

fertility in turner syndrome for women

Answer 362

assisted reproductive technology using donor ova with close follow up bc poststenotic dilation of aorta leading to dissecting aneurysms may occur

Question 363

late detection in Turner syndrome in girls

Answer 363

in subtle phenotypes
sometimes diagnosed during workup for short stature for which they may receive growth hormone

sometimes dx during adolescence or adulthood when they fail to develop secondary sexual characteristics or during infertility workup

Question 364

although monosomy x in Turner syndrome is caused by nondisjunction, TS is not associated with advanced maternal age, Rather it is believed that

Answer 364

the 45, X karyotype results from a loss of either an X or Y chromosome after conception so a postconceptual mitotic (rather than meiotic) nondissjunctional event

Question 365

A deletion in the short arm of chromosome 5 is responsible for

Answer 365

Cri du chat syndrome

Question 366

characteristic catlike dry during infancy

Answer 366

Cri du chat syndrome

Question 367

Clinical features of Cri du chat syndrome

Answer 367

catlike dry during infancy
low birth weight
postnatal failure to thrive
hypotonia
developmental disability
microcephaly
craniofacial dysmorphism
-ocular hypertelorism
-epicanthal folds
-downward obliquity of the palpebral fissures
-low set malformed ears
-cleft lip/palate
-congenital heart disease

Question 368

Caused by a 1.55 megabase deletion in chromosome 7q11.2 that contains at least 28 genes

Answer 368

Williams Syndrome

Question 369

Features of Williams syndrome

Answer 369

congenital heart disease (80%)
-supravalvular aortic and pulmonic stenosis most common
-growth delay with short stature
-Distinctive facial appearance
-median flare of eyebrows
-fullness of perioral and periorbital region
-blue irides with stellate pattern of pigment
-depressed nasal bridge
-anteversion of nares
-moderate intellectual disability (ave IQ 57)
-Strong personal social skills
-“Cocktail party personality”
-Loquacious and gregarious
-Deficiency in cognitive skills
-Autism spectrum
-occasionally have unusual musical ability

-hypercalcemia

Question 370

Inheritance in Williams

Answer 370

most have a de novo deletion
rare cases- inherited from a parent in a Autosomal Dominant pattern

Question 371

deletion of 11p13

Answer 371

WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation)

Question 372

What does WAGR stand for

Answer 372

Wilms tumor

Aniridia - is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris).

Genitourinary anomalies (cryptorchidism and hypospadias)

mental retardation

Question 373

Deletions of chromosome 22q11.2 are responsible for a group of findings that have been called by several names, including

Answer 373

Velocardiofacial syndrome

Conotruncal anomaly face syndrome

Shprintzen syndrome

DiGeorge syndrome

Question 374

22q11.2D can be inherited in an _____ _______ fashion, most cases arise _______

Answer 374

Autosomal dominant
de novo

Question 375

Features of 22q11.2 deletion

Answer 375

cleft palate with velopharyngeal insufficiency

conotruncal cardiac defects (truncus arteriosus, VSD, TOF and Right sided aortic arch)

characteristic facial
-prominent nose
broad nasal root

can also have
cleft palate
micrognathia

Speech and language difficulties are common
mild ID

70% with immunodeficiency s/t T-cell dysfunction

psychiatric problems (wide range to include schizophrenia, bipolar)

abnormalities in
thymus gland
parathyroid gland

Question 376

What tests need to be ordered if pt is confirmed 22q11DS

Answer 376

Either fluorescence in situ hybridization (FISH) or
chromosomal microarray analysis

The region, composed of about 3 million bases contains between 30-40 genes
Many of these deleted genes probably contribute to the phenotype, special attention has been focused on TBX1 and COMT which are believed to be responsible for many of the features related to this condition

Question 377

In 22q11DS, what genes are thought to be responsible for many of the features related to the condition

Answer 377

The region, composed of about 3 million bases contains between 30-40 genes
Many of these deleted genes probably contribute to the phenotype, special attention has been focused on TBX1 and COMT which are believed to be responsible for many of the features related to this condition

Question 378

Duplications and deletions occur secondary to

Answer 378

misalignment and unequal crossing over during meiosis

Question 379

Chromosome ___is the most common of all marker chromosomes (small extra chromosomes)

Answer 379

15
its inverted duplication accounts for almost 40% of this group of chromosomal abnormalities

Question 380

Inverted Duplication chromosome 15 features

Answer 380

Developmental disability

autism

seizures

behavioral disorders

sloping forehead

short and downward slanting palpebral fissures

prominent nose with a broad nasal bridge

long and well defined philtrum

a midline crease in lower lip

micrognathia

Question 381

named for iris coloboma that gives patients a catlike appearance

Answer 381

Cat eye syndrome

Question 382

caused by presence of a small extra chromosome composed of an inversion duplication of 22q11

Answer 382

cat eye syndrome

Question 383

clinical features of cat eye syndrome

Answer 383

iris coloboma that gives pt a catlike appearance

mild ID

behavioral disturbances

ocular hypertelorism

downward slanting palpebral fissures

micrognathia

auricular pits and/or tags

anal atresia with rectovestibular fistula

renal agenesis