Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Clinical Science > Quiz 1 > Flashcards

Quiz 1 Flashcards

You may prefer our related Brainscape-certified flashcards:
Biology 101 flashcards
1
Q

Phenotype

A

the observable train or set of traits that is created from your genetic makeup Ex: hair color, eye color, flower color, wrinkled seeds.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Genotype

A

an individual’s collection of genes, or can reference to two particular alleles that codes for a gene (AA, Aa, aa). Determines phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Penetrance

A

the percentage of expression of a particular gene or set of genes. May be complete or incomplete.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

4 base pairs of DNA

A

Adenine, Thymine, Cytosine, Guanine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Transcription

A

is the first step of gene expression, in which a particular segment of DNA is copied into RNA (mRNA) by the enzyme RNA polymerase. Both RNA and DNA are nucleic acids, which use base pairs of nucleotides as a complementary language.

DNA transcribed into mRNA.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Translation

A

(mRNA)—produced by transcription from DNA—is decoded by a ribosome to produce a specific amino acid chain, or polypeptide. The polypeptide later folds into an active protein and performs its functions in the cell.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Chromosomal Structure

A

DNA is tightly wound around a histone to form nucleosomes that equal about 140 base pairs. Nucleosomes are linked to form chromatin that is further condensed into chromatin. 22 pairs and 1 pair of sex chromosomes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Homozygous

A

both alleles are identical the individual is homozygous

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Heterozygous

A

each allele is different

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Allele

A

homologous copies of a gene…Human have two sets of each gene, once copy on each chromosome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Locus

A

location of a particular gene on a chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Germinal mutation

A

occurs during formation off an egg or sperm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

somatic mutation

A

mutation occurs after conception

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Chromosomal aberration

A

alteration in the number or the physical structure of a chromosome. Most pregnancies with these mutations end in spontaneous abortion.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Monosomy

A

only one chromosome of a pair is present

ex: Turner’s Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Trisomy

A

three chromosomes are present

Ex: Down’s Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Polysomy

A

one chromosome is present 4 or more times.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Causes of abnormal numbers of proteins

A

nondisjunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Changes in phenotype

A

caused by deletions and insertions of a chromosomal region

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Chromosomal abnormality associated with Down’s Syndrome

A

trisomy 21 - most common trisomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

3 physical features of a Down Syndrome child.

A
  1. decreased muscle tone.
  2. flat facial features
    large, protruding tongue.
  3. small nose
  4. Upward slant of eyes
  5. Abnormally shaped ears.
  6. Deep palmar crease
  7. hyperflexibility
  8. extra space between 1st and 2nd toes.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What are 3 medical complications associated with Downs Syndrome

A
  1. Cardiac defects
  2. intestinal malformations
  3. vision abnormalities
  4. hearing loss
  5. recurrent respiratory infections
  6. memory loss
  7. increased risk of Alzheimer’s at an early age.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Genotype of Kleinfelter

A

XXY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Effect of Kleinfelter Syndrome

A

usually sterile due to impaired spermatogenesis.

50% will develop breasts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

3 Physical effects of Kleinfelter syndrome

A
  1. Frontal Baldness absent.
  2. Less chest hair
  3. Breast development
  4. Female type pubic hair pattern.
  5. small testicular size
  6. long arms and legs
  7. wide hips
  8. narrow shoulders
  9. Poor beard growth
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Consequences of Kleinfelter syndrome

A
  1. small testes
  2. low sperm count
  3. elevated FSH and LH
  4. Decreased serum testosterone
  5. Abnormal arm and leg length due to testosterone deficiency
  6. increased risk of breast cancer and pulmonary disease.
  7. impaired psychosocial skills, including ADHD, impaired judgment and insight.
  8. impaired higher language skills.
  9. increased risk of Non Hodgkin’s Lymphoma, leg ulcers, diabetes, lupus
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Turner Syndrome Genotype

A

XO

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Physical features of Turner Syndrome

A 
short stature
Low posterior hairline
heart shaped face
short, wide chest
prominent neck folds
broad, wide chest with widely spaced nipples
Coarctation of the aorta
cubital valgus
usually sterile, low estrogen
small breasts
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Consequences of Turner Syndrome

A 
hearing loss
hypothyroidism
autoimmune thyroiditis
elevated liver enzymes
Primary Amenorrhea
osteoporosis
renal structure abnormalities
diabetes 
Hypertension
aortic dissection
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

what base pairs pair together

A

Adenosine-Thymine

Cytosine-Guanine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

which chromosome abnormality on lecture 1 can increase the risk of Alzheimer’s disease at an early age

A

1, 14, 19, 21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

In autosomal recessive patterns, what chance does each child have of inheriting an abnormal phenotype?

A

25%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

In autosomal dominant patterns, what chance does each child have of inheriting an abnormal phenotype?

A

50%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What inheritance pattern occurs frequently in consanguinity?

A

Autosomal Recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What 2 inheritance patterns tend to skip generations?

A

Autosomal recessive

X-linked recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Which type of trait is passed from mother to all her offspring?

A

Mitochondiral inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What needs to be restricted in the diet of a patient with PKU

A

Phenylalenine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Name the 3 germ layers that develop from the inner cell mass during the embryonic stage of development

A

Ectoderm, mesoderm, endoderm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What is the critical period for teratogenesis?

A

3-16 weeks due to impairment of organogenesis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What is the medical category of a medication is the worst and has shown demonstrated fetal abnormalities as a result of medication?

A

Category X

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q
  1. Name two of the three limb abnormalities that were associated with use of thalidomide
A

Ameilia - no limbs
Miromelia - partial abscence of a limb
Phocomelia - absence of long bones with hands and feet attached to trunk with small rudimentary bones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Name the two malignancies associated with DES daughters

A

Cervical cancer and vaginal cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

This acne medication is one of the most potent teratogenic medications in use today

A

Isotrentinoin (accutane)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Which hypertension medication category is known to be teratogenic?

A

ACE inhibitors - the “prils”

Lisinopril, Ramipril Enalapril, Captopril

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q
  1. Which medication can cause nasal hypoplasia and limb hypoplasia?
A

Warfarin (Coumadin)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

“Floppy infant syndrome” can occur with which type of anti-anxiety medication?

A

Benzodiazepines

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Describe three physical abnormalities associated with fetal alcohol syndrome?

A
  1. small head
  2. epicanthal folds
  3. flat midface
  4. smooth filthrum
  5. underdeveloped jaw
  6. thin upper lip
  7. short nose
  8. small eye openings
  9. low nasal bridge
  10. “railroad track ears”
  11. Ptosis - drooping eyelids
  12. decreased elbow pronation and supination
  13. incomplete extension of digits
  14. “hockey stick crease” defects in palmar crease
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

Vasoconstriction and hypertension mediate the effects of which illicit drug used in pregnancy?

A

Cocaine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Name 3 maternal effects from cocaine

A

Likely to be related to vasoconstriction and hypertension:

  1. MI
  2. Arrhythmias
  3. Aortic rupture
  4. CVA (stroke)
  5. Seizure
  6. Bowel Ischemia
  7. sudden death
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

Name three fetal effects from exposure to cocaine prenatally.

A
  1. spontaneous abortion
  2. fetal demise
  3. placental abruption
  4. Premature birth
  5. IUGR - intrauterine growth restriction
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What does the TORCH acronym stand for?

A 
T -Toxoplasmosis
O - other infections
R - Rubella
C - Cytomegalovirus
H - Herpes
52
Q

Name two sources of toxoplasmosis.

A

Contaminated soil
Cat feces
undercooked meat
unfiltered water

53
Q

Exposure to this agent can cause chorioretinitis, hydrocephalus and intracranial calcifications.

A

Toxoplasmosis

54
Q

In what exposure do infants present with a white to bloody nasal discharge?

A

Syphilis

55
Q

What virus presents with “mono-like” symptoms?

A

Cytomegalovirus

56
Q

What virus in newborns presents with skin, eye and mouth manifestations and can spread to the CNS?

A

Herpes

57
Q

Name the two hallmark changes that occur with Alzheimer’s Disease?

A

Amyloid Plaques and neurofibrillary tangles

58
Q

Amyloid plaques

A

abnormal deposits of a protein called beta amyloid that is found in the space between neurons

59
Q

Neurofibrillary Tangles

A

formed by clumps of tau protein, which is part of the structure of the microtubules that support the structure of the neuron

60
Q

Describe three manifestations of Alzheimer’s Disease.

A

Memory deficits - especially facts and recall of recent events early in AD
Language changes - verbal disfluency, anomia, reduced vocabulary, diminished comprehension, circumlocution
Visuospatial skills - misplacement of items worsening navigation
reduced insight to own deficits
Apraxia or dyspraxia
loss of executive function
mild depression
Changes in olefactory function
Loss of sleep or fragmented sleep

61
Q

How is early-onset AD inherited?

A

Autosomal Dominant in most cases

62
Q

Name two of the three genes associated with early-onset AD?

A 
Amyloid precursor protein (APP)
Presenilin 1 (PSN1)
Presenilin 2 (PSN2)
63
Q

Which gene is most strongly linked with Late-onset AD?

A

APO epsilon 4 - increases risk by 3-8 fold depending on whether a person has 1 or 2 copies of the allele. 35-50% of people w/ AD have at least 1 copy of APOE epsilon 4

64
Q

How is Huntington’s Disease inherited?

A

Autosomal Dominant pattern, only one copy is needed

65
Q

Name three manifestations of Huntington’s Disease?

A
  1. Chorea
  2. Gait abnormalities
  3. Abnormal, slow eye movements, absence of smooth movements
  4. Psychiatric abnormalities: irritability, anxiety, depression, disrupted social relationships, paranoia, aggression, delusions
  5. Loss of insight, inflexibility, memory loss, impaired judgement
  6. Weight loss/ cachexia
66
Q

How may CAG repeats are considered positive for Huntington’s Disease?

A

over 40 repeats (so 41 repeats for a diagnosis). The more CAG repeats, the earlier onset and increased severity of the disease. If inherited from your father, onset will occur 3 years earlier than if you had inherited HD from your mother.

67
Q

How is CF inherited?

A

Autosomal recessive

68
Q

What ion transport is affected in CF?

A

Chloride

69
Q

Name three clinical manifestations in CF.

A
  1. Failure to thrive/ impaired growth - due to malabsorption of pancreatic insufficiency
  2. Chronic pulmonary infections
  3. Nasal Polyps, epistaxis, siusitis
  4. Chronic cough w/ or w/o sputum, hemoptysis
  5. Abnormal lung parynchema
  6. Cor Pulmonale R sided heart failure)
  7. Pancreatic inflammation and pancreatitis
  8. Steatorrhea - increased fat in stool
  9. CF is related to Diabetes Mellitus
  10. Liver damage, portal hypertension
  11. CF Males - 98% are infertile due to absence of Vas Defrens
70
Q

Which gene is involved in NF1?

A

Neurofibromatosis 1 on chromosome 17

71
Q

Name three clinical dermatologic manifestations of NF1.

A
  1. Cafe au Lat macules - 6 or more are indicatie of NF1
  2. Freckling, especially in areas of opposition such as axillary and inguinal regions
  3. Lisch nodules, small hamartomas of the iris, most common in adult NF1.
  4. Neurofibromas - plexiform or nodule
  5. Plexiform neurofibromas - may have hypertrichosis and cause severe disfigurement
72
Q

What tumor of the eye occurs in 15% of NF1 patients?

A

Optic Gliomas

73
Q

Name two bony manifestations of NF1.

A
  1. Pseudoarthrosis of the long bones.
  2. Bowing of legs
  3. Scoliosis
  4. Short Stature
  5. Osteoporosis
74
Q

NF2 primarily causes tumors on what area of the body?

A

CNS and auditory nerves. Can have ocular manifestations as well

75
Q

How is PKD usually transmitted?

A

Autosomal Dominant

76
Q

PKD causes faster progression to what disease?

A

End Stage Renal Failure

77
Q

Name three manifestations of PKD.

A
  1. Renal Lithiasis
  2. Hematuria
  3. Proteinuria
  4. Flank Pain
  5. Urinary Tract /Kindney infection
  6. Hypertension resulting from disturbances of renal perfusion
78
Q

What lab calculation should you make before giving a patient with PKD medication?

A

Creatinin clearance

79
Q

What is the most dangerous complication for a patient with PKD?

A

Intracranial Aneurysm occurs in about 10-20% of people w/ PKD

80
Q

How is hereditary hemochromatosis inherited?

A

Autosomal Recessive

81
Q

Over what age do patients with HHC usually present?

A

over 40 - this is due to the excess absorption over a period of years

82
Q

What lab tests might you see elevated in HHC?

A
  1. liver enzymes
  2. Serum Iron
  3. CBC - (high WBCs due to increased infections)
83
Q

Name three clinical manifestations of HHC.

A 
Reversible:
1. Cardiomyopathy
2. Arrythmia
3. Abdominal pain,increased liver enzymes, hepatomegaly
4. Skin hyperpigmentation
5. Infection
Permanent:
1. Cirrhosis
2. Hepatocellular carcinoma
3. Hypogonadism
4. Diabetes Mellitus
5. Hypothyroidism
6. Arthritis
84
Q

Name the two factors deficiencies in Hemophilia A and B.

A

Factor 8 and Factor 9

85
Q

How is hemophilia transmitted?

A

X-linked recessive

86
Q

Name three clinical manifestations of hemophilia.

A
  1. Intracranial hemorrhage
  2. abnormal bleeding with procedures
  3. excessive bruising - disproportionate to the injury.
  4. hematomas
  5. hemarthroses
  6. epistaxis
  7. bleeding from pharynx after coughing
  8. Melena - blood in stool
  9. hematuria
  10. Menorrhagia - in female carriers
  11. delayed post-traumatic blessing, oozing, hemorrhage out of proportion to the injury
87
Q

Which type of VWF is the worst and why?

A

Type 3 b/c you have no VFW that is able to function properly

88
Q

How is sickle cell anemia transmitted?

A

Autosomal Recessive

89
Q

Name three clinical manifestations of sickle cell anemia.

A 
Infants and Children: 
1. failure to thrive
2. anemia
3. splenomegaly
4. multiple infections
5. swelling in extremities due to vaso-occlusion
Adult:
1. chronic anemia
2. jaundice
3. cholelithiasis
4. Aplastic crisis - cessation of RBC rpoduction caused by Strep infection, Epstein-Barr virus, Parvovirus B19, and certain meds.
5. tissue ischemia
6. sever abd pain
7. stroke
8. acute chest syndrome - chest pain, dyspnea, fever.
9. Renal necrosis
10. leg ulcers
11. priaprism
12. vision loss due to infarction
90
Q

Name two dermatologic manifestations of familial hyperlipidemia.

A

Tendon Xanthomas

Xanthelasma

91
Q

How is Marfan Syndrome inherited?

A

Autosomal Dominant or de-novo

92
Q

What structure or tissue is basically abnormal in Marfan Syndrome?

A

Fibrillin = connective tissue is overly elastic

93
Q

What structural abnormality with Marfan Syndrome is the major cause or morbidity and mortality?

A

Aortic Root Disease

94
Q

What does dolichostenomelia and arachnodactyly mean?

A

Dolichostenomelia - arm span greater than body height

Arachnodactyly - spider like fingers

95
Q

Name two tests/ maneuvers that indicate possible Marfan Syndrome.

A

Positive thumb sign

Positive wrist sign

96
Q

Differentiate between pectus carinatum and pectus excavatum?

A

Pectus Excavatum- “funnel chest”

Pectus Carinatum- “pigeon chest”

97
Q

Name three other clinical manifestations of Marfan Syndrome.

A

Hindfoot valgus - “L shape” “too many toes” sign

Pes Planus”

98
Q

Name one way that hemophilia may present in a newborn.

A

excessive bleeding post-circumcision, bruising or hematoma after use of forceps or vacuum during delivery.

99
Q

Christmas Disease

A

Factor 9 deficiency Hemophilia B

100
Q

Classic hemophilia

A

Factor 8 deficiency

101
Q

Name three clinical presentations of aortic dissection.

A
  1. Chest pain
  2. Upper back and L shoulder pain
  3. Hypotension (shock if severe)
  4. May have EKG changes (not always)
102
Q

Name the four “Ps” in aortic aneurysm.

A
  1. Pallor
  2. Pulselessness
  3. Parasthesias
  4. Paralysis
103
Q

Name one possible way to differentiate between familial and sporadic thoracic aortic aneurysms (TAA)

A

Familial TAA present at an earlier age than Sporadic TAA (56 vs. 64)
Familial TAAs involve the Ascending Aorta in 80% of cases

104
Q

Name the four types of cardiomyopathies.

A
  1. Dialated - dilatation of at least one of the ventricles of the heart which results in impaired contraction of one or both ventricles
  2. hypertrophic - myocardium becomes thickened especially the L ventricle
  3. Restrictive - stiffening and rigidity of the ventricles due to replacement of normal myocardium by scar tissue, no hypertrophy of the ventricle
  4. Arrythmogenic - right ventricular myocardium replaced with scar tissue
105
Q

Which two types of cardiomyopathies are most common.

A

Hypertrophic and Arrythmogenic

106
Q

Name three manifestations of hypertrophic cardiomyopathy.

A
  1. Left ventricular hypertrophy
  2. Impaired left ventricular contractility
  3. Dyspnea on exertion
  4. Palpitations
  5. Chest pain
  6. Syncope
107
Q

What is the lifetime risk for breast cancer?

A

10-13% or a 1/10-1/7

108
Q

What percentage of breast cancers are attributable to genetics?

A

5-10%

109
Q

What group in the U.S. are at a significant risk of developing hereditary breast cancer?

A

Ashkenazi Jews

110
Q

How are BRCA genes inherited?

A

Autosomal Dominant

111
Q

What are the normal functions of normal BRCA1 and BRCA2 genes?

A

Tumor Suppressors
preserve the structure and function of chromatids and chromosomes
repair breaks in DNA

112
Q

Which mutation is associated with a higher risk of breast cancer between the two?

A

BRCA 1

113
Q

Name two other cancers types that may be increased in BRCA1 mutation carriers.

A 
fallopian tube
primary paritoneum
pancreas
esophageal
stomach
prostate
114
Q

What is the lifetime risk of ovarian cancer?

A

lifetime risk is greater than 1%
40% in BRCA1
18% in BRCA 2

115
Q

At what age do you start annual mammograms in patient with HBOC?

A

25-35 years old

116
Q

Name two factors that influence the development of colorectal cancer in the general population.

A 
Physical inactivity
poor diet
tobaccos use
obesity
lower rates of colorectal sreening
117
Q

In an older person, what may be the first presenting sign of colorectal cancer and warrants investigation?

A

Anemia of unexplained origin

118
Q

Name two things that differentiate FAP from attenuated FAP.

A
  1. Number of polyps - FAP: hundreds to thousands may develop. attenuated FAP - fewer polyps (
119
Q

In Lynch Syndrome, what two things are different and frightening about the polyps?

A

Polyps are flatter, larger, and have a rapid transformation into CA.

120
Q

Name two other associated malignancies for Lynch Syndrome patients.

A
  1. Uterine cancer
  2. Ovarian cancer
  3. Gastric cancer
  4. Small bowel cancer
  5. Biliary tract cancer
  6. Upper urinary tract cancer
  7. Pancreatic cancer
  8. Skin cancer
  9. Brain cancer
121
Q

Name the syndrome associated with colorectal cancer that causes macules on the lips and oral regions.

A

Peutz-Jehgers Syndrome

122
Q

What food is best associated with the city associated with the chromosomal abnormality of chronic myelogenous leukemia?

A

Philly Cheese Steak

Philadelphia Chromosome

123
Q

What three blood cells proliferate in CML?

A

The “Phils”
Eosiniphil
Basophil
Neutrophil

124
Q

Name three manifestations of CML.

A

increased:
infection
anemia
bleeding

125
Q

What does ABCD stand for in malignant melanoma?

A

A - Asymmetrical
B - borders
C - color
D - diameter

126
Q

Which type of melanin produces higher risk individuals for malignant melanoma?

A

Pheomelanin

127
Q

Two types of Melanin

A

Eumelanin

Pheomelanin

Clinical Science (6 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions