Final Chapter 10: Genetic Disorders & Prenatal Screening Flashcards
A nurse is educating a pregnant patient about the purpose of an ultrasound in the first trimester. Which statement by the patient indicates understanding?
A) “The ultrasound can determine my baby’s gender at this stage.”
B) “It will confirm the presence of a fetal heartbeat and gestational age.”
C) “This test will screen for gestational diabetes.”
D) “The ultrasound will check my cervix for dilation.”
B) “It will confirm the presence of a fetal heartbeat and gestational age.”
Rationale: First-trimester ultrasound confirms pregnancy, detects a fetal heartbeat, estimates gestational age, and rules out ectopic pregnancy. Fetal gender is typically determined after 16-20 weeks.
A patient at 32 weeks gestation is scheduled for a biophysical profile (BPP) via ultrasound. What does this test assess?
A) Placental maturity and fetal position
B) Fetal heart rate, movement, tone, breathing, and amniotic fluid volume
C) Cervical dilation and risk for preterm labor
D) The presence of fetal anomalies
B) Fetal heart rate, movement, tone, breathing, and amniotic fluid volume
Rationale: A biophysical profile (BPP) is a comprehensive fetal assessment that evaluates fetal well-being through ultrasound and a nonstress test (NST). A score of 8-10 is reassuring, while a low score indicates fetal distress.
A nurse is preparing a patient for a transabdominal ultrasound at 20 weeks gestation. What pre-procedure instruction should be given?
A) “Drink several glasses of water before the exam and do not urinate.”
B) “You need to empty your bladder completely before the test.”
C) “Avoid eating or drinking for 8 hours before the procedure.”
D) “This test requires an intravenous contrast injection.”
A) “Drink several glasses of water before the exam and do not urinate.”
Rationale: A full bladder improves visualization of pelvic structures during transabdominal ultrasound. In contrast, a transvaginal ultrasound requires an empty bladder.
A pregnant patient asks about the risks of ultrasound screening. Which response by the nurse is correct?
A) “Ultrasounds expose the baby to radiation, so they should be limited.”
B) “Ultrasounds may cause birth defects if done too frequently.”
C) “You will need sedation during the procedure.”
D) “Ultrasound is noninvasive and does not pose known risks to you or your baby.”
D) “Ultrasound is noninvasive and does not pose known risks to you or your baby.”
Rationale: Ultrasound uses sound waves (not radiation) and is considered safe during pregnancy. It does not cause birth defects and does not require sedation.
A patient is undergoing a nuchal translucency ultrasound at 12 weeks gestation. What condition is this test primarily screening for?
A) Spina bifida
B) Down syndrome and chromosomal abnormalities
C) Fetal lung maturity
D) Placental abruption
B) Down syndrome and chromosomal abnormalities
Rationale: Nuchal translucency ultrasound measures the fluid at the back of the fetal neck. Increased thickness may indicate trisomy 21 (Down syndrome) or other chromosomal abnormalities. It is typically performed between 11-14 weeks.
A nurse is assisting with a transvaginal ultrasound for a first-trimester patient. Which action is appropriate?
A) Ask the patient to empty their bladder before the procedure.
B) Ensure the patient has a full bladder for better visualization.
C) Position the patient in a prone position.
D) Place the ultrasound probe directly on the patient’s abdomen.
A) Ask the patient to empty their bladder before the procedure.
Rationale: Unlike transabdominal ultrasound, transvaginal ultrasound provides better visualization without a full bladder. The patient is positioned supine with knees bent.
A nurse is reviewing ultrasound results for a patient at 36 weeks gestation. Which finding is most concerning?
A) Amniotic fluid index (AFI) of 8 cm
B) Fetal heart rate of 140 bpm
C) Placenta previa covering the cervix
D) Fetal presentation in cephalic position
C) Placenta previa covering the cervix
Rationale: Placenta previa at 36 weeks increases the risk of hemorrhage and may require a C-section. The other findings are normal for a term pregnancy.
A 24-week pregnant patient is undergoing an ultrasound for fetal growth assessment. Which measurement is most commonly used?
A) Cervical length
B) Amniotic fluid index
C) Biparietal diameter and femur length
D) Endometrial thickness
C) Biparietal diameter and femur length
Rationale: Biparietal diameter (BPD), head circumference, femur length, and abdominal circumference are used to assess fetal growth and estimated gestational age in the second and third trimesters.
A nurse is explaining the doppler ultrasound portion of a biophysical profile (BPP). What is the purpose of this test?
A) To measure amniotic fluid levels
B) To assess fetal breathing movements
C) To evaluate blood flow through the umbilical cord and placenta
D) To determine fetal weight
C) To evaluate blood flow through the umbilical cord and placenta
Rationale: Doppler ultrasound assesses fetal circulation and placental function. It is commonly used in high-risk pregnancies (e.g., IUGR, preeclampsia).
A nurse is reviewing a patient’s ultrasound report at 28 weeks gestation. The amniotic fluid index (AFI) is 4 cm. What condition should the nurse suspect?
A) Oligohydramnios
B) Polyhydramnios
C) Normal findings
D) Hydatidiform mole
A) Oligohydramnios
Rationale: An AFI <5 cm indicates oligohydramnios, which is associated with fetal renal abnormalities, placental insufficiency, and fetal distress. Polyhydramnios is diagnosed if AFI > 25 cm.
What is the probability that an affected individual with an autosomal dominant disorder will pass the disorder on to their child?
A) 25%
B) 50%
C) 75%
D) 100%
B) 50%
Rationale: In autosomal dominant inheritance, an affected individual with one affected parent has a 50% chance of passing the disorder on to their child. This is because the affected parent has one dominant allele for the disorder, which can be transmitted to the offspring.
Which characteristics are true for autosomal dominant inheritance?(SATA)
A) Affected individuals always have two affected parents
B) Males and females are equally affected
C) The disorder can skip generations
D) The probability of passing the disorder is 50%
B) Males and females are equally affected
D) The probability of passing the disorder is 50%
Rationale: In autosomal dominant inheritance, males and females are equally affected, and an affected individual has a 50% chance of passing the disorder on to their offspring. It is not necessary for both parents to be affected, and the disorder generally does not skip generations.
Which nervous system disorder is commonly associated with autosomal dominant inheritance?
A) Cystic fibrosis
B) Sickle cell anemia
C) Phenylketonuria (PKU)
D) Huntington’s Disease
D) Huntington’s Disease
Rationale: Huntington’s Disease is a common autosomal dominant disorder affecting the nervous system, characterized by abnormal involuntary movements and progressive dementia.
What are the primary characteristics of polycystic kidney disease in autosomal dominant inheritance?
A) Small, functional cysts throughout the liver
B) Grape-like clusters of fluid-filled cysts in the kidney
C) Abnormal liver function
D) Increased cognitive function
B) Grape-like clusters of fluid-filled cysts in the kidney
Rationale: Polycystic kidney disease, an autosomal dominant disorder, is characterized by grape-like clusters of fluid-filled cysts in the kidney that replace functioning renal tissue, leading to renal impairment.
Which disorders are examples of autosomal dominant inheritance? (SATA)
A) Huntington’s Disease
B) Polycystic kidney disease
C) Cystic fibrosis
D) Tay-Sachs disease
A) Huntington’s Disease
B) Polycystic kidney disease
Rationale: Examples of autosomal dominant inheritance include Huntington’s Disease and polycystic kidney disease. Cystic fibrosis and Tay-Sachs disease are examples of autosomal recessive disorders.
How does autosomal dominant inheritance affect males and females?
A) Only males are affected
B) Only females are affected
C) Males and females are equally affected
D) It varies depending on environmental factors
C) Males and females are equally affected
Rationale: In autosomal dominant inheritance, both males and females are equally affected, as the disorder is inherited regardless of sex because the defective gene is located on an autosome (nonsex chromosome).
What is the main characteristic of autosomal dominant inheritance disorders?
A) Both alleles must be abnormal for the disorder to be expressed
B) The disorder skips generations
C) Only males are affected
D) A single gene in the heterozygous state is capable of producing the phenotype
D) A single gene in the heterozygous state is capable of producing the phenotype
Rationale: Autosomal dominant inheritance disorders occur when a single abnormal or mutant gene in the heterozygous state overshadows the normal gene, resulting in the expression of the disorder’s phenotype.
Which statements are true regarding autosomal dominant inheritance disorders?
A) The affected individual has a 50% chance of passing the abnormal gene to each child
B) Males and females are equally affected
C) The disorder can be passed from an affected male to his son
D) Phenotypically normal family members do not transmit the condition
all of the choices are correct
Rationale: In autosomal dominant inheritance, affected individuals have a 50% chance of passing the abnormal gene to each child. Males and females are equally affected, and an affected male can pass the disorder to his son. Phenotypically normal family members do not transmit the condition.
Why is male-to-male transmission important in distinguishing autosomal dominant inheritance from X-linked inheritance?
A) Because only autosomal recessive disorders show male-to-male transmission
B) Because autosomal dominant disorders do not affect females
C) Because X-linked inheritance does not exhibit male-to-male transmission
D) Because autosomal dominant disorders are inherited from the mother only
C) Because X-linked inheritance does not exhibit male-to-male transmission
Rationale: Male-to-male transmission is important in distinguishing autosomal dominant inheritance from X-linked inheritance because X-linked inheritance does not exhibit male-to-male transmission, as males inherit the X chromosome from their mothers.
What is the significance of varying degrees of presentation among individuals in a family with an autosomal dominant disorder?
A) It indicates that only some family members carry the gene
B) It means that all family members will have the same severity of the disorder
C) It means a parent with a mild form could have a child with a more severe form
D) It indicates the disorder is not inherited
C) It means a parent with a mild form could have a child with a more severe form
Rationale: Varying degrees of presentation among individuals in a family with an autosomal dominant disorder indicate that a parent with a mild form of the disorder could have a child with a more severe form, highlighting the variable expressivity of the disorder.
Which disorders follow an autosomal dominant pattern of inheritance?
A) Neurofibromatosis
B) Huntington disease
C) Achondroplasia
D) Polycystic kidney disease
all of the choices are correct
Rationale: Common genetic disorders that follow an autosomal dominant pattern of inheritance include neurofibromatosis, Huntington disease, achondroplasia, and polycystic kidney disease.
Which disorder is characterized by the growth of multiple, bilateral, grape-like clusters of fluid-filled cysts in the kidneys?
A) Huntington disease
B) Neurofibromatosis
C) Achondroplasia
D) Polycystic kidney disease
D) Polycystic kidney disease
Rationale: Polycystic kidney disease is characterized by the growth of multiple, bilateral, grape-like clusters of fluid-filled cysts in the kidneys that eventually compress and replace functioning renal tissue.
How is an autosomal dominant disorder inherited if one parent is affected?
A) There is a 25% chance the child will be affected
B) There is a 50% chance the child will be affected
C) There is a 75% chance the child will be affected
D) The disorder skips a generation
B) There is a 50% chance the child will be affected
Rationale: If one parent is affected by an autosomal dominant disorder, there is a 50% chance that the child will inherit the abnormal gene and be affected by the disorder.
What type of genetic disorder is Huntington disease?
A) Autosomal recessive
B) X-linked dominant
C) Autosomal dominant
D) Mitochondrial
C) Autosomal dominant
Rationale: Huntington disease is an autosomal dominant genetic disorder that affects the nervous system, characterized by abnormal involuntary movements and progressive dementia.
Which pattern of inheritance is indicated if a genetic disorder is transmitted equally to males and females, and can be passed from an affected male to his son?
A) X-linked recessive
B) X-linked dominant
C) Autosomal recessive
D) Autosomal dominant
D) Autosomal dominant
Rationale: Autosomal dominant inheritance is indicated if the genetic disorder is transmitted equally to males and females and can be passed from an affected male to his son, distinguishing it from X-linked inheritance.
What is the genetic basis of achondroplasia?
A) It is an X-linked recessive disorder
B) It is an autosomal recessive disorder
C) It is an autosomal dominant disorder
D) It is a mitochondrial disorder
C) It is an autosomal dominant disorder
Rationale: Achondroplasia is an autosomal dominant disorder resulting in disordered growth and abnormal body proportion, caused by a single defective gene overshadowing the normal gene.
What is required for an individual to demonstrate signs and symptoms (S/S) of an autosomal recessive disorder?
A) Two mutant or abnormal genes
B) One mutant gene
C) A single dominant gene
D) An X-linked gene
A) Two mutant or abnormal genes
Rationale: Autosomal recessive disorders occur when an individual inherits two mutant or abnormal genes, one from each parent, which are necessary to demonstrate the signs and symptoms of the disorder.
What are the characteristics of autosomal recessive inheritance disorders? (SATA)
A) Both parents are carriers of the gene
B) Less common than autosomal dominant disorders
C) Affected individuals have one mutant gene
D) Males and females are equally affected
A) Both parents are carriers of the gene
B) Less common than autosomal dominant disorders
D) Males and females are equally affected
Rationale: Autosomal recessive inheritance disorders are characterized by both parents being carriers of the gene for the child to be affected. These disorders are less common than autosomal dominant disorders, and males and females are equally affected.
What is cystic fibrosis?
A) A dysfunction of the nervous system
B) A dysfunction of exocrine glands
C) A blood disorder
D) A genetic disorder affecting muscle growth
B) A dysfunction of exocrine glands
Rationale: Cystic fibrosis is a genetic disorder that involves dysfunction of the exocrine glands, leading to the production of thick mucus that can obstruct airways and affect respiratory and digestive systems.
Which genetic disorder involves the abnormal shape of red blood cells and vaso-occlusion?
A) Phenylketonuria (PKU)
B) Cystic fibrosis
C) Spinal muscular atrophy (SMA)
D) Sickle cell anemia
D) Sickle cell anemia
Rationale: Sickle cell anemia is a genetic disorder where red blood cells become abnormally shaped (“sickle”) and can become stuck, causing vaso-occlusion and leading to very painful conditions.
Which disorders are included in prenatal and newborn screening for autosomal recessive conditions? (SATA)
A) Cystic fibrosis
B) Spinal muscular atrophy (SMA)
C) Phenylketonuria (PKU)
D) Hemophilia
A) Cystic fibrosis
B) Spinal muscular atrophy (SMA)
C) Phenylketonuria (PKU)
Rationale: Cystic fibrosis, spinal muscular atrophy (SMA), and phenylketonuria (PKU) are included in prenatal and newborn screening for autosomal recessive conditions. Hemophilia is typically X-linked.
What is phenylketonuria (PKU)?
A) A genetic disorder affecting the nervous system
B) A disorder of the exocrine glands
C) A deficiency in a liver enzyme needed to process the amino acid phenylalanine
D) A disorder affecting red blood cells
C) A deficiency in a liver enzyme needed to process the amino acid phenylalanine
Rationale: Phenylketonuria (PKU) is a genetic disorder characterized by a deficiency in a liver enzyme required to process the essential amino acid phenylalanine. Without treatment, this can lead to intellectual disability and other health issues.
How is sickle cell anemia inherited?
A) Through mutations in the X chromosome
B) When hemoglobin S is on the beta-globin gene
C) By a dominant gene
D) Only through the maternal line
B) When hemoglobin S is on the beta-globin gene
Rationale: Sickle cell anemia is inherited when the hemoglobin S mutation occurs on the beta-globin gene, leading to the production of abnormal hemoglobin and sickle-shaped red blood cells.
What is the primary reason for including certain genetic disorders in newborn screening programs?
A) To provide early diagnosis and treatment
B) To ensure uniform genetic profiles
C) To collect data for research purposes
D) To eliminate genetic disorders
A) To provide early diagnosis and treatment
Rationale: The primary reason for including certain genetic disorders in newborn screening programs is to provide early diagnosis and treatment, which can significantly improve health outcomes for affected individuals.
Which genetic disorder involves abnormal involuntary movements and progressive dementia?
A) Huntington disease
B) Cystic fibrosis
C) Spinal muscular atrophy (SMA)
D) Polycystic kidney disease
A) Huntington disease
Rationale: Huntington disease is a genetic disorder affecting the nervous system characterized by abnormal involuntary movements and progressive dementia.
Why are autosomal recessive disorders less common than autosomal dominant disorders?
A) They require both parents to be carriers
B) They only affect males
C) They are influenced by environmental factors
D) They skip generations
A) They require both parents to be carriers
Rationale: Autosomal recessive disorders are less common than autosomal dominant disorders because they require both parents to be carriers of the mutant gene for the disorder to be expressed in the offspring.
What is required for an individual to demonstrate signs and symptoms of an autosomal recessive disorder?
A) One mutant gene
B) Two mutant or abnormal genes
C) A dominant gene
D) An X-linked gene
B) Two mutant or abnormal genes
Rationale: Autosomal recessive inheritance disorders occur when two copies of the mutant or abnormal gene in the homozygous state are necessary to produce the phenotype. Therefore, two abnormal genes are needed for the individual to demonstrate signs and symptoms of the disorder.
What are the characteristics of parents of an affected individual with an autosomal recessive disorder? (SATA)
A) Both parents must be carriers of the gene
B) Only one parent needs to be a carrier
C) Parents are heterozygous carriers of the gene
D) Parents show signs and symptoms of the disorder
A) Both parents must be carriers of the gene
C) Parents are heterozygous carriers of the gene
Rationale: For an individual to be affected by an autosomal recessive disorder, both parents must be heterozygous carriers of the gene. These parents are clinically normal but carry the mutant gene, enabling them to pass it on to their offspring.
What is the probability that offspring of two carrier parents will be affected by an autosomal recessive disorder?
A) 25%
B) 50%
C) 75%
D) 100%
A) 25%
Rationale: When both parents are carriers of the gene for an autosomal recessive disorder, their offspring have a 25% chance of inheriting two mutant genes, making them affected by the disorder.
Which disorders follow an autosomal recessive inheritance pattern? (SATA)
A) Cystic fibrosis
B) Huntington disease
C) Tay-Sachs disease
D) Sickle cell disease
A) Cystic fibrosis
C) Tay-Sachs disease
D) Sickle cell disease
Rationale: Common genetic disorders that follow the autosomal recessive inheritance pattern include cystic fibrosis, Tay-Sachs disease, and sickle cell disease. Huntington disease follows an autosomal dominant inheritance pattern.
What is the significance of consanguinity in the context of autosomal recessive inheritance?
A) It eliminates the risk of genetic disorders
B) It increases the chance that both parents will be carriers of the mutant gene
C) It has no effect on genetic inheritance
D) It guarantees that offspring will be affected
B) It increases the chance that both parents will be carriers of the mutant gene
Rationale: Consanguinity (having a common ancestor) increases the chance that both parents will be carriers of the mutant gene, thereby increasing the likelihood of their offspring being affected by an autosomal recessive disorder.
Which genetic disorder results from the insufficient activity of the enzyme hexosaminidase A?
A) Cystic fibrosis
B) Phenylketonuria (PKU)
C) Tay-Sachs disease
D) Sickle cell disease
C) Tay-Sachs disease
Rationale: Tay-Sachs disease is a genetic disorder resulting from insufficient activity of the enzyme hexosaminidase A, which is necessary for the breakdown of certain fatty substances in the brain and nerve cells.
Which characteristics are true for individuals affected by autosomal recessive disorders? (SATA)
A) They have two copies of the mutant gene
B) They are carriers of the gene
C) They can pass the disorder to their offspring
D) They are always present in multiple generations
A) They have two copies of the mutant gene
C) They can pass the disorder to their offspring
Rationale: Individuals affected by autosomal recessive disorders have two copies of the mutant gene and can pass the disorder to their offspring if the partner is also a carrier.
A group of students are reviewing information about genetic inheritance. The students demonstrate understanding of the information when they identify which of the following as an example of an autosomal recessive disorder?
A) Cystic fibrosis
B) Phenylketonuria
C) Tay-Sachs disease
D) Polycystic kidney disease
A) Cystic fibrosis
When describing genetic disorders to a group of childbearing couples, the nurse would identify which as an example of an autosomal dominant inheritance disorder?
A) Huntingtons disease
B) Sickle cell disease
C) Phenylketonuria
D) Cystic fibrosis
A) Huntingtons disease
What causes chromosomal abnormalities in genetic disorders?
A) Mutations in a single gene
B) Changes in the number or structure of chromosomes
C) Environmental influences alone
D) Traditional patterns of inheritance
B) Changes in the number or structure of chromosomes
Rationale: Chromosomal abnormalities in genetic disorders result from changes in the number of chromosomes or changes in the structure of the chromosomes, rather than mutations in a single gene or traditional patterns of inheritance.
Do chromosomal abnormalities follow straightforward patterns of inheritance?
A) No, they do not follow straightforward patterns of inheritance
B) Yes, they follow simple Mendelian patterns
C) They follow dominant inheritance patterns
D) They follow recessive inheritance patterns
A) No, they do not follow straightforward patterns of inheritance
Rationale: Chromosomal abnormalities do not follow straightforward patterns of inheritance, making them different from single gene disorders that follow Mendelian inheritance patterns.
On which chromosomes can chromosomal abnormalities occur?
A) Autosomal chromosomes only
B) Sex chromosomes only
C) Both autosomal and sex chromosomes
D) Mitochondrial chromosomes
C) Both autosomal and sex chromosomes
Rationale: Chromosomal abnormalities can occur on both autosomal chromosomes (non-sex chromosomes) and sex chromosomes, affecting the structure or number of these chromosomes.
What are the types of changes that can lead to chromosomal abnormalities? (SATA)
A) Increase in the number of chromosomes
B) Decrease in the number of chromosomes
C) Structural changes in chromosomes
D) Only mutations in genes
A) Increase in the number of chromosomes
B) Decrease in the number of chromosomes
C) Structural changes in chromosomes
Rationale: Chromosomal abnormalities can result from an increase or decrease in the number of chromosomes, as well as structural changes in the chromosomes. These abnormalities do not solely result from gene mutations.
Why do chromosomal abnormalities differ from traditional genetic inheritance patterns?
A) They are influenced only by environmental factors
B) They involve multiple genes
C) They follow Mendelian inheritance
D) They result from changes in the number or structure of chromosomes
D) They result from changes in the number or structure of chromosomes
Rationale: Chromosomal abnormalities differ from traditional genetic inheritance patterns because they result from changes in the number or structure of chromosomes, rather than following Mendelian patterns of single gene inheritance.
What causes chromosomal abnormalities?
A) Mutations in a single gene
B) Changes in the number or structure of chromosomes
C) Environmental influences alone
D) Traditional patterns of inheritance
B) Changes in the number or structure of chromosomes
Rationale: Chromosomal abnormalities arise when the normal complement of 46 chromosomes that produces a karyotype is altered. This can occur due to changes in the number of chromosomes (increase or decrease) or changes in their structure.
Which outcomes are often associated with chromosomal abnormalities? (SATA)
A) Major defects
B) Congenital anomalies
C) Intellectual disability
D) Increased resistance to diseases
A) Major defects
B) Congenital anomalies
C) Intellectual disability
Rationale: Chromosomal abnormalities can lead to major defects, congenital anomalies, and intellectual disabilities due to the presence of added or missing genes. They do not generally increase resistance to diseases.
What types of chromosomes can be affected by chromosomal abnormalities?
A) Only autosomal chromosomes
B) Only sex chromosomes
C) Both autosomal and sex chromosomes
D) Only mitochondrial chromosomes
C) Both autosomal and sex chromosomes
Rationale: Chromosomal abnormalities can occur on both autosomal chromosomes (non-sex chromosomes) and sex chromosomes, affecting either their number or structure.
What is the typical process during which chromosomal abnormalities arise?
A) DNA replication
B) Environmental exposure
C) Protein synthesis
D) Cell division
D) Cell division
Rationale: Chromosomal abnormalities typically arise during cell division, when the normal complement of 46 chromosomes that produces a karyotype is altered, either by an increase or decrease in the number of chromosomes or changes in their structure.
What often causes chromosomal abnormalities of number?
A) Mutation in a single gene
B) Nondisjunction during cell division
C) Environmental factors alone
D) Dominant allele inheritance
B) Nondisjunction during cell division
Rationale: Chromosomal abnormalities of number often result from nondisjunction, which is the failure of chromosome pairs to separate properly during cell division, whether during meiosis or mitosis.
What are types of polyploidy in humans? (SATA)
A) Triploidy
B) Tetraploidy
C) Monosomy
D) Trisomy
A) Triploidy
B) Tetraploidy
C) Monosomy
Rationale: Polyploidy refers to an increase in the number of haploid sets of chromosomes. In humans, triploidy involves three whole sets of chromosomes (69 chromosomes), and tetraploidy involves four whole sets of chromosomes (92 chromosomes). Monosomy and trisomy are numerical abnormalities but not types of polyploidy.
What is the usual outcome of polyploidy in humans?
A) Full-term development
B) Early spontaneous abortion
C) Birth with minor defects
D) No effect on development
B) Early spontaneous abortion
Rationale: Polyploidy usually results in an early spontaneous abortion and is incompatible with life due to the significant alteration in the number of chromosomes.
Which chromosomal numerical abnormalities are compatible with development to term?
A) Monosomies involving chromosome 1
B) Polyploidy involving 92 chromosomes
C) Nondisjunction of sex chromosomes
D) Trisomies involving chromosome 13, 18, 21, or X
D) Trisomies involving chromosome 13, 18, 21, or X
Rationale: Numerical abnormalities that can support development to term include trisomies involving chromosomes 13, 18, 21, or X, as these chromosomes carry relatively few genes and can sometimes be compatible with life.
What are common trisomies in humans? (SATA)
A) Trisomy 21
B) Trisomy
18 C) Trisomy 13
D) Trisomy 1
A) Trisomy 21
B) Trisomy
18 C) Trisomy 13
Rationale: Common trisomies in humans include trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. Trisomy 1 is not a common or viable trisomy in humans.
What is the outcome of monosomies in most cases?
A) Full-term development with no defects
B) Early spontaneous abortion
C) Birth with minor intellectual disabilities
D) Normal development
C) Birth with minor intellectual disabilities
Rationale: Monosomies usually result in early spontaneous abortion because the fetus has only one copy of a particular chromosome instead of the usual pair, which is generally incompatible with life.
Which chromosomal abnormality refers to the presence of three of a particular chromosome?
A) Monosomy
B) Trisomy
C) Polyploidy
D) Nondisjunction
B) Trisomy
Rationale: Trisomy refers to the presence of three copies of a particular chromosome instead of the usual two. This can occur in every cell or in a mosaic form, where only some cells have the extra chromosome.
How do mosaic forms of numerical chromosomal abnormalities differ from non-mosaic forms?
A) Mosaic forms have only one type of cell
B) Non-mosaic forms are always incompatible with life
C) Mosaic forms have a mix of normal and abnormal cells
D) Non-mosaic forms are always the result of polyploidy
C) Mosaic forms have a mix of normal and abnormal cells
Rationale: Mosaic forms of numerical chromosomal abnormalities involve a mix of normal and abnormal cells, meaning that some cells have the extra or missing chromosome while others do not. This can sometimes result in milder symptoms compared to non-mosaic forms.
What causes Trisomy 21?
A) Mutations in a single gene
B) Abnormal cell division involving chromosome 21
C) Environmental factors alone
D) Dominant inheritance pattern
B) Abnormal cell division involving chromosome 21
Rationale: Trisomy 21 results from abnormal cell division involving chromosome 21, leading to three copies of chromosome 21 instead of the usual two.
What are characteristics of the mosaic form of Trisomy 21? (SATA)
A) Involves only some cells
B) Every cell is affected
C) Results from mutations in the Y chromosome
D) Can result in milder symptoms compared to the non-mosaic form
A) Involves only some cells
D) Can result in milder symptoms compared to the non-mosaic form
Rationale: The mosaic form of Trisomy 21 involves only some cells, not every cell being affected. This can result in milder symptoms compared to the non-mosaic form, where all cells have the extra chromosome.
What is the relationship between maternal age and the risk of having a child with Trisomy 21?
A) Risk decreases with maternal age
B) Risk remains the same regardless of age
C) Risk is highest at age 25
D) Risk increases with maternal age
D) Risk increases with maternal age
Rationale: The risk of having a child with Trisomy 21 increases with maternal age. For example, the risk is 1:1,250 at age 25, 1:1,000 at age 30, 1:400 at age 35, 1:100 at age 40, and 1:40 at age 45.
Which congenital defects can be associated with Trisomy 21? (SATA)
A) Mild intellectual disabilities
B) Moderate intellectual disabilities
C) Severe intellectual disabilities
D) No congenital defects
A) Mild intellectual disabilities
B) Moderate intellectual disabilities
Rationale: Congenital defects associated with Trisomy 21 can range from mild to moderate intellectual disabilities. The severity can vary among individuals.
Why might defects associated with Trisomy 21 not be seen on an ultrasound?
A) Ultrasound technology cannot detect genetic abnormalities
B) Defects are always visible on ultrasound
C) Some defects may be too subtle to be detected by ultrasound
D) Trisomy 21 only affects internal organs
C) Some defects may be too subtle to be detected by ultrasound
Rationale: Some defects associated with Trisomy 21 may be too subtle to be detected by ultrasound, making it possible for certain abnormalities to go unnoticed during prenatal screening.
*What is the term for having three copies of chromosome 21?
A) Monosomy 21
B) Trisomy 21
C) Mosaicism
D) Polyploidy
B) Trisomy 21
Rationale: Trisomy 21 refers to having three copies of chromosome 21, which is the genetic basis for Down syndrome.
How does the mosaic form of Trisomy 21 affect the presentation of the disorder?
A) It always leads to more severe symptoms
B) It leads to a higher risk of spontaneous abortion
C) It causes defects in all cells
D) It results in a mix of normal and abnormal cells, potentially leading to milder symptoms
D) It results in a mix of normal and abnormal cells, potentially leading to milder symptoms
Rationale: The mosaic form of Trisomy 21 results in a mix of normal and abnormal cells, which can potentially lead to milder symptoms compared to the non-mosaic form where every cell has the extra chromosome.
What is the cause of Down syndrome?
A) Mutation in a single gene
B) Abnormal cell division involving chromosome 21
C) Environmental factors
D) Autosomal recessive inheritance
B) Abnormal cell division involving chromosome 21
Rationale: Down syndrome is caused by abnormal cell division involving chromosome 21, resulting in extra genetic material from this chromosome.
Which genetic variations can cause Down syndrome? (SATA)
A) Trisomy 21
B) Mosaic
C) Translocation
D) Duplication
A) Trisomy 21
B) Mosaic
C) Translocation
Rationale: The three genetic variations that can cause Down syndrome include trisomy 21 (three copies of chromosome 21 in all cells), mosaic (some cells with an extra copy of chromosome 21), and translocation (part of chromosome 21 attached to another chromosome).
What is the most common genetic variation causing Down syndrome?
A) Mosaic
B) Translocation
C) Trisomy 21
D) Duplication
C) Trisomy 21
Rationale: More than 90% of the cases of Down syndrome are caused by trisomy 21, where the infant has three copies of chromosome 21 instead of the usual two copies.
What are characteristic features of children with Down syndrome? (SATA)
A) Small, low-set ears
B) Hyperflexibility
C) Muscle hypotonia
D) Long neck
A) Small, low-set ears
B) Hyperflexibility
C) Muscle hypotonia
Rationale: Characteristic features of children with Down syndrome include small, low-set ears, hyperflexibility, muscle hypotonia, among others.
Which of the following features is NOT associated with Down syndrome?
A) Almond-shaped eyes that slant upward
B) Short stature in childhood and adulthood
C) Large, protruding ears
D) Small, white, crescent-shaped spots on the irises
C) Large, protruding ears
Rationale: Children with Down syndrome typically have small, low-set ears that may fold over a little at the pinna, rather than large, protruding ears.
What is the significance of the simian crease in children with Down syndrome?
A) It indicates severe cognitive impairment
B) It is a deep crease across the palm
C) It is associated with hearing loss
D) It causes muscle hypotonia
B) It is a deep crease across the palm
Rationale: The simian crease is a deep crease that runs across the palm and is a characteristic feature of children with Down syndrome.
How has the outlook for children with Down syndrome changed in recent years?
A) They face more societal integration challenges
B) Their life expectancy has decreased
C) They are becoming increasingly integrated into society
D) Early intervention has little impact
C) They are becoming increasingly integrated into society
Rationale: The outlook for children with Down syndrome has improved, with individuals becoming increasingly integrated into society and participating in diverse activities.
What is the average lifespan of individuals with Down syndrome today?
A) 30 years
B) 40 years
C) 50 years
D) 60 years
D) 60 years
Rationale: The average lifespan of individuals with Down syndrome has increased dramatically and is now approaching that of peers without Down syndrome, with an average lifespan of around 60 years.
Which features are characteristic of Down syndrome? (SATA)
A) Short neck
B) Flat facial profile with a flat nose
C) Broad, short fingers
D) Long legs
A) Short neck
B) Flat facial profile with a flat nose
C) Broad, short fingers
Rationale: Characteristic features of Down syndrome include a short neck, flat facial profile with a flat nose, and broad, short fingers.
Why does the risk of Down syndrome increase with maternal age?
A) Due to increased exposure to environmental toxins
B) Due to higher likelihood of nondisjunction during cell division
C) Due to changes in paternal genes
D) Due to increased physical activity
B) Due to higher likelihood of nondisjunction during cell division
Rationale: The risk of Down syndrome increases with maternal age because the likelihood of nondisjunction (failure of chromosome pairs to separate properly during cell division) increases as women age.
Which genetic variation involves part of chromosome 21 becoming attached to another chromosome?
A) Trisomy 21
B) Mosaic
C) Translocation
D) Duplication
C) Translocation
Rationale: Translocation involves part of chromosome 21 becoming attached (translocated) to another chromosome before or at conception, which can cause Down syndrome.
What are Trisomy 13 and Trisomy 18?
A) More common than Down syndrome
B) Rarer occurrences than Down syndrome
C) Caused by mutations in a single gene
D) Inherited through autosomal dominance
B) Rarer occurrences than Down syndrome
Rationale: Trisomy 13 and Trisomy 18 are chromosomal abnormalities that are rarer occurrences compared to Down syndrome.
What are the common structural abnormalities associated with Trisomy 13 and Trisomy 18?
A) Microcephaly
B) Cleft lip/palate
C) Major heart defects
D) Spina bifida
A) Microcephaly
B) Cleft lip/palate
C) Major heart defects
Rationale: Common structural abnormalities associated with Trisomy 13 and Trisomy 18 include microcephaly, cleft lip/palate, and major heart defects. Spina bifida is not specifically mentioned as related to these trisomies in the text.
How are abnormalities in Trisomy 13 and Trisomy 18 usually detected?
A) Blood tests
B) Physical examination at birth
C) Genetic screening postnatally
D) Ultrasound (U/S)
D) Ultrasound (U/S)
Rationale: Abnormalities in Trisomy 13 and Trisomy 18 are usually detected on ultrasound (U/S) due to the severe structural abnormalities associated with these conditions.
What is the typical survival outcome for infants with Trisomy 13 and Trisomy 18?
A) Most survive to adulthood
B) Most do not go to term or survive longer than a few days to months
C) They have a normal lifespan
D) They only survive with intensive medical intervention
B) Most do not go to term or survive longer than a few days to months
Rationale: Most infants with Trisomy 13 do not survive longer than a few days, and those with Trisomy 18 may survive beyond a few months. Many do not go to term.
Which of the following chromosomal abnormalities is associated with a higher survival rate compared to the others?
A) Trisomy 13
B) Trisomy 18
C) Down syndrome
D) Monosomy
C) Down syndrome
Rationale: Down syndrome (Trisomy 21) is associated with a higher survival rate and better prognosis compared to Trisomy 13 and Trisomy 18.
What type of care is typically provided for infants with Trisomy 13 and Trisomy 18?
A) Intensive surgical interventions
B) Supportive care
C) Long-term rehabilitation
D) Palliative care
B) Supportive care
D) Palliative care
Rationale: Infants with Trisomy 13 and Trisomy 18 typically receive supportive care and, in many cases, palliative care, due to the severe structural abnormalities and low survival rates.
Which ultrasound findings are associated with Trisomy 18 (Edward syndrome)? (SATA)
A) Intrauterine growth restriction (IUGR)
B) Hydramnios or oligohydramnios
C) Cardiac malformations
D) Single umbilical artery
all of the choices are correct
Rationale: Prenatally, several findings associated with Trisomy 18 (Edward syndrome) can be apparent on ultrasound, including intrauterine growth restriction (IUGR), hydramnios or oligohydramnios, cardiac malformations, and a single umbilical artery.
Which serum markers are decreased in maternal serum in cases of Trisomy 18?
A) Maternal serum alpha-fetoprotein (MSAFP) and hCG
B) Thyroxine and insulin
C) Estrogen and progesterone
D) Ferritin and transferrin
B) Thyroxine and insulin
Rationale: Trisomy 18 has been associated with a decrease in maternal serum levels of maternal serum alpha-fetoprotein (MSAFP) and hCG.
Which are common abnormalities associated with Trisomy 13 (Patau syndrome)? (SATA)
A) Microcephaly
B) Cardiac defects
C) Polydactyly
D) Spina bifida
A) Microcephaly
B) Cardiac defects
C) Polydactyly
Rationale: Common abnormalities associated with Trisomy 13 (Patau syndrome) include microcephaly, cardiac defects, and polydactyly, among other severe congenital anomalies.
What is the life expectancy for most infants with Trisomy 13?
A) A few days
B) A few months
C) One year
D) Several years
A) A few days
Rationale: Life expectancy for most infants with Trisomy 13 (Patau syndrome) is only a few days due to the severity of the congenital anomalies.
Which chromosomal condition is characterized by 47 chromosomes with three copies of chromosome 13?
A) Down syndrome
B) Trisomy 18
C) Turner syndrome
D) Trisomy 13
D) Trisomy 13
Rationale: Trisomy 13, or Patau syndrome, is characterized by the presence of 47 chromosomes, with three copies of chromosome 13.
What type of care is typically provided for infants with Trisomy 18 and Trisomy 13?
A) Intensive surgical interventions
B) Long-term rehabilitation
C) Supportive care
D) Genetic therapy
C) Supportive care
Rationale: Infants with Trisomy 18 (Edward syndrome) and Trisomy 13 (Patau syndrome) typically receive supportive care due to the severity of the congenital anomalies and the high degree of infant mortality associated with these conditions.
What usually causes chromosomal structural abnormalities?
A) Mutations in single genes
B) Incorrect repair of broken chromosome ends
C) Environmental toxins
D) Viral infections
B) Incorrect repair of broken chromosome ends
Rationale: Chromosomal structural abnormalities usually occur when a portion of one or more chromosomes is broken or lost, and during the repair process, the broken ends are rejoined incorrectly, leading to too much or too little genetic material.
What are the different forms of altered chromosome structure? (SATA)
A) Deletions
B) Duplications
C) Inversions
D) Mutations
A) Deletions
B) Duplications
C) Inversions
Rationale: Altered chromosome structure can take several forms, including deletions (loss of a portion of the chromosome), duplications (extra chromosomal segment), and inversions (a portion of the chromosome breaks off, inverts, and reattaches).
What is a deletion in terms of chromosomal abnormalities?
A) A portion of the chromosome is missing
B) A portion of the chromosome is duplicated
C) A portion of the chromosome is inverted
D) A portion of the chromosome is transferred to another chromosome
A) A portion of the chromosome is missing
Rationale: A deletion occurs when a portion of the chromosome is missing, resulting in a loss of that chromosomal material.
What is the most clinically significant structural chromosomal abnormality?
A) Deletion
B) Duplication
C) Inversion
D) Translocation
D) Translocation
Rationale: The most clinically significant structural chromosomal abnormality is a translocation, which occurs when part of one chromosome is transferred to another chromosome, resulting in an abnormal rearrangement.
What is the phenotype of individuals who inherit balanced structural abnormalities?
A) Usually phenotypically normal
B) Always show severe clinical consequences
C) Always miscarry
D) Show mosaic patterns
A) Usually phenotypically normal
Rationale: Individuals who inherit balanced structural abnormalities are usually phenotypically normal, but they are at a higher risk for miscarriages and chromosomally abnormal offspring.
What clinical findings can result from structural abnormalities of chromosomes?
A) Depend on the size of the rearrangement only
B) Depend on the amount of genetic material involved
C) Are always detectable at birth
D) Have no effect on phenotype
B) Depend on the amount of genetic material involved
Rationale: Clinical findings resulting from structural abnormalities of chromosomes can vary depending on the amount of genetic material involved. Larger rearrangements typically result in more severe clinical consequences.
Which part of the chromosome is affected in Cri-du chat syndrome?
A) Long arm of chromosome 5
B) Short arm of chromosome 5
C) Long arm of chromosome 21
D) Short arm of chromosome 21
B) Short arm of chromosome 5
Rationale: Cri-du chat syndrome results from a defect in the short arm of chromosome 5.
What characteristic symptom is associated with Cri-du chat syndrome?
A) High-pitched laughing
B) Deep, hoarse voice
C) Cat-like cry
D) No vocalization
C) Cat-like cry
Rationale: Cri-du chat syndrome is characterized by a laryngeal defect that leads to a distinctive “cat-like” cry in affected infants.
What are the outcomes for individuals with Cri-du chat syndrome? (SATA)
A) No treatment available
B) Survival through adulthood
C) Require extensive medical intervention
D) Often lead normal lives without support
A) No treatment available
B) Survival through adulthood
Rationale: There is no specific treatment for Cri-du chat syndrome, but individuals with this condition can survive through adulthood with supportive care.
What genetic abnormality leads to Cri-du chat syndrome?
A) Deletion of part of chromosome 5
B) Duplication of part of chromosome 21
C) Translocation involving chromosome 18
D) Inversion of part of chromosome 13
A) Deletion of part of chromosome 5
Rationale: Cri-du chat syndrome is caused by a deletion of a portion of the short arm of chromosome 5.
How is the characteristic “cat-like” cry produced in Cri-du chat syndrome?
A) Due to a defect in the lungs
B) Due to abnormal vocal cord structure
C) Due to neurological impairment
D) Due to a laryngeal defect
D) Due to a laryngeal defect
Rationale: The characteristic “cat-like” cry in Cri-du chat syndrome results from a laryngeal defect that affects the infant’s ability to produce normal vocal sounds.
What are the characteristic symptoms associated with Cri du chat syndrome? (SATA)
A) High-pitched cry in infancy
B) Microcephaly
C) Wide-set eyes
D) Enlarged epiglottis
A) High-pitched cry in infancy
B) Microcephaly
C) Wide-set eyes
Rationale: Characteristic symptoms of Cri du chat syndrome include a high-pitched cry in infancy due to a laryngeal defect, microcephaly, and wide-set eyes. The epiglottis is typically small and floppy, not enlarged.
What are the common causes of death in infants with Cri du chat syndrome?
A) Heart defects and respiratory distress
B) Renal failure and liver disease
C) Gastrointestinal obstructions and infections
D) Neurological deficits and seizures
A) Heart defects and respiratory distress
Rationale: Common causes of death in infants with Cri du chat syndrome include pneumonia, aspiration pneumonia, congenital heart defects, and respiratory distress.
What additional clinical features may be present in individuals with Cri du chat syndrome? (SATA)
A) Scoliosis
B) Speech delay
C) High birth weight
D) Low-set ears
A) Scoliosis
B) Speech delay
D) Low-set ears
Rationale: Additional clinical features of Cri du chat syndrome may include scoliosis, speech delay, low birth weight and slow growth, hypotonia, and low-set ears, among others.
What intervention is recommended for parents of a child diagnosed with Cri du chat syndrome?
A) Genetic counseling
B) Immediate surgical intervention
C) Hormone replacement therapy
D) Vaccination against common infections
A) Genetic counseling
Rationale: Parents of a child diagnosed with Cri du chat syndrome should be referred for genetic counseling to understand the genetic implications, recurrence risks, and supportive care options.
At what age is Fragile X syndrome usually diagnosed?
A) At birth
B) By age 1
C) By age 3
D) By age 5
C) By age 3
Rationale: Fragile X syndrome is typically diagnosed by age 3. This allows for early intervention and support for the developmental challenges associated with the condition.
What characterizes Fragile X syndrome at the chromosomal level?
A) Extra copies of chromosome 21
B) Deletion of part of chromosome 5
C) Translocation involving chromosome 13
D) Breaks and gaps in the X chromosome
D) Breaks and gaps in the X chromosome
Rationale: Fragile X syndrome is characterized by breaks and gaps in the X chromosome, which lead to the symptoms and features associated with the disorder.
What are common physical features associated with Fragile X syndrome? (SATA)
A) Intellectual disability
B) Large ears
C) Long face
D) Short stature
B) Large ears
C) Long face
Rationale: Common physical features associated with Fragile X syndrome include large ears and a long face. Intellectual disability is a characteristic symptom, not a physical feature, and short stature is not typically associated with Fragile X.
What type of symptoms are often seen in individuals with Fragile X syndrome?
A) Cardiovascular symptoms
B) Respiratory symptoms
C) Autism-type symptoms
D) Gastrointestinal symptoms
C) Autism-type symptoms
Rationale: Individuals with Fragile X syndrome often exhibit autism-type symptoms, such as social and communication challenges, repetitive behaviors, and sensory sensitivities.
Is Fragile X syndrome more common in males or females?
A) Males
B) Females
C) Equally common in males and females
D) More common in neither
B) Females
Rationale: Fragile X syndrome is more common in females. Although males typically have more severe symptoms, the condition is more frequently diagnosed in females.
How does Fragile X syndrome affect life expectancy?
A) Significantly shortens life-span
B) Shortens life-span by a few years
C) Life-span is unaffected
D) Extends life-span
C) Life-span is unaffected
Rationale: Life expectancy for individuals with Fragile X syndrome is generally unaffected, meaning they can have a normal life expectancy.
What intervention is crucial for parents with a child diagnosed with Fragile X syndrome?
A) Immediate surgical intervention
B) Genetic counseling
C) Hormone replacement therapy
D) Long-term use of antibiotics
B) Genetic counseling
Rationale: Genetic counseling is crucial for parents with a child diagnosed with Fragile X syndrome to understand the genetic implications, recurrence risks, and supportive care options.
What are common features of Fragile X syndrome? (SATA)
A) Large head
B) Long face
C) Short attention span
D) Deep-set eyes
A) Large head
B) Long face
C) Short attention span
Rationale: Common features of Fragile X syndrome include a large head, long face, and short attention span. Deep-set eyes are not typically associated with Fragile X syndrome.
How does Fragile X syndrome affect males compared to females?
A) Females are carriers and males exhibit full symptoms
B) Males are carriers and females show full symptoms
C) Both males and females are carriers
D) Both males and females exhibit full symptoms
A) Females are carriers and males exhibit full symptoms
Rationale: Typically, females become carriers and are mildly affected, while males who receive the X chromosome with the fragile site exhibit the full effects of Fragile X syndrome.
What behaviors are associated with Fragile X syndrome? (SATA)
A) Hand flapping
B) Speech delay
C) Inflexible behavior
D) Improved attention span
A) Hand flapping
B) Speech delay
C) Inflexible behavior
Rationale: Behaviors associated with Fragile X syndrome include hand flapping, speech delay, and inflexible behavior. An improved attention span is not a characteristic symptom.
What types of therapies are usually needed for individuals with Fragile X syndrome?
A) Genetic therapy and long-term antibiotics
B) Chemotherapy and radiation
C) Hormone replacement therapy
D) Speech, occupational, and physical therapy
D) Speech, occupational, and physical therapy
Rationale: Individuals with Fragile X syndrome usually require speech, occupational, and physical therapy, as well as special education and counseling, to address developmental challenges.
What distinguishes sex chromosome abnormalities from autosomal chromosomal abnormalities?
A) They are usually more severe in their clinical effects
B) They are typically less severe in their clinical effects
C) They do not affect sexual development
D) They are inherited through mitochondrial DNA
B) They are typically less severe in their clinical effects
Rationale: Sex chromosome abnormalities are usually less severe in their clinical effects compared to autosomal chromosomal abnormalities.
What are common effects of sex chromosome abnormalities? (SATA)
A) Infertility
B) Growth abnormalities
C) Enhanced cognitive abilities
D) Behavioral and learning problems
A) Infertility
B) Growth abnormalities
D) Behavioral and learning problems
Rationale: Common effects of sex chromosome abnormalities include infertility, growth abnormalities, and behavioral and learning problems. Enhanced cognitive abilities are not associated with these conditions.
Which sex chromosome abnormalities are gender-specific?
A) Down syndrome and Turner syndrome
B) Fragile X syndrome and Klinefelter syndrome
C) Klinefelter syndrome and Turner syndrome
D) Turner syndrome and Patau syndrome
C) Klinefelter syndrome and Turner syndrome
Rationale: Klinefelter syndrome (in males) and Turner syndrome (in females) are examples of gender-specific sex chromosome abnormalities.
What impact do sex chromosome abnormalities have on individuals’ lives?
A) Most affected individuals lead normal lives
B) All affected individuals have severe disabilities
C) They typically result in a short lifespan
D) They are always fatal in early childhood
A) Most affected individuals lead normal lives
Rationale: Many individuals affected by sex chromosome abnormalities lead essentially normal lives, although they may experience issues related to sexual development, infertility, and learning problems.
What is the cause of Prader-Willi Syndrome?
A) Defect on the maternal chromosome 15
B) Defect on the paternal chromosome 15
C) Defect on chromosome 21
D) Defect on the X chromosome
B) Defect on the paternal chromosome 15
Rationale: Prader-Willi Syndrome results from a defect on the paternal chromosome 15, which can involve a deletion, two copies from the mother, or an imprinting defect.
How does Prader-Willi Syndrome affect males and females?
A) Males are more affected than females
B) Females are more affected than males
C) Males and females are affected equally
D) Only males are affected
C) Males and females are affected equally
Rationale: Prader-Willi Syndrome affects males and females equally.
Which clinical features are associated with Prader-Willi Syndrome? (SATA)
A) Obesity in childhood
B) Excessive eating
C) Behavioral challenges
D) Hypertonia
A) Obesity in childhood
B) Excessive eating
C) Behavioral challenges
Rationale: Clinical features of Prader-Willi Syndrome include obesity in childhood, excessive eating, and behavioral challenges. Hypotonia, not hypertonia, is also a feature of the syndrome.
What is hypotonia in the context of Prader-Willi Syndrome?
A) Increased muscle tone
B) Decreased muscle tone
C) Normal muscle tone
D) Spastic muscle tone
B) Decreased muscle tone
Rationale: Hypotonia refers to decreased muscle tone, which is a characteristic feature of Prader-Willi Syndrome.
Which genetic defects can lead to Prader-Willi Syndrome? (SATA)
A) Deletion on maternal chromosome 15
B) Two copies of chromosome 15 from the mother
C) Imprinting defect on paternal chromosome 15
D) Duplication of chromosome 21
B) Two copies of chromosome 15 from the mother
C) Imprinting defect on paternal chromosome 15
Rationale: Genetic defects that can lead to Prader-Willi Syndrome include having two copies of chromosome 15 from the mother (uniparental disomy) and imprinting defects on the paternal chromosome 15.
How does Prader-Willi Syndrome typically present in childhood?
A) Hypoactivity and low appetite
B) Obesity and excessive eating
C) Tall stature and hyperactivity
D) Normal growth and development
B) Obesity and excessive eating
Rationale: Prader-Willi Syndrome typically presents in childhood with obesity and excessive eating due to an insatiable appetite and lack of satiety.
What are common behavioral challenges associated with Prader-Willi Syndrome?(SATA)
A) Compulsive behaviors
B) Anxiety and tantrums
C) Social withdrawal
D) Enhanced cognitive abilities
A) Compulsive behaviors
B) Anxiety and tantrums
Rationale: Common behavioral challenges associated with Prader-Willi Syndrome include compulsive behaviors, anxiety, and tantrums. Social withdrawal and enhanced cognitive abilities are not typically associated with the syndrome.
What impact does Prader-Willi Syndrome have on muscle tone?
A) It decreases muscle tone
B) It increases muscle tone
C) It causes normal muscle tone
D) It causes variable muscle tone
A) It decreases muscle tone
Rationale: Prader-Willi Syndrome leads to decreased muscle tone (hypotonia), which is a significant feature of the disorder.
Which population is equally affected by Prader-Willi Syndrome?
A) Males only
B) Females only
C) Males and females
D) Children only
C) Males and females
Rationale: Prader-Willi Syndrome affects both males and females equally, with no gender predilection.
What is the chromosomal cause of Turner Syndrome?
A) Extra X chromosome
B) Single X chromosome
C) Deletion of part of chromosome 15
D) Translocation of chromosome 21
B) Single X chromosome
Rationale: Rationale: Turner Syndrome is caused by the presence of a single X chromosome instead of the usual two sex chromosomes (XX).
Which population is affected by Turner Syndrome?
A) Males only
B) Females only
C) Both males and females
D) Children only
B) Females only
Rationale: Turner Syndrome affects females only and has an incidence of approximately 1 in 2,000 female births.
What are the reproductive effects of Turner Syndrome? (SATA)
A) Affects fertility
B) Failure to develop breasts
C) Normal development of ovaries
D) Failure to develop ovaries
A) Affects fertility
B) Failure to develop breasts
D) Failure to develop ovaries
Rationale: Turner Syndrome affects fertility and the development of sex organs, leading to failure to develop breasts and ovaries.
How does the severity of Turner Syndrome defects vary?
A) All cases are severe
B) All cases are mild
C) Defects can range from mild to severe
D) Only mild cases are diagnosed
C) Defects can range from mild to severe
Rationale: The severity of defects in Turner Syndrome can range from mild to severe, affecting various aspects of development.
When are diagnoses of Turner Syndrome commonly made?
A) Only in adulthood
B) Only in infancy
C) In adolescence, childhood, and neonatal period
D) During prenatal screening only
C) In adolescence, childhood, and neonatal period
Rationale: Diagnoses of Turner Syndrome are commonly made in adolescence, childhood, and the neonatal period. One-third of diagnoses occur in each of these stages.
How is Turner Syndrome increasingly being diagnosed?
A) Through physical examination
B) Through prenatal screening/testing
C) Through genetic counseling
D) Through MRI scans
B) Through prenatal screening/testing
Rationale: Turner Syndrome is increasingly being diagnosed through prenatal screening and testing, which helps identify the condition before birth.
What are common diagnostic features for Turner Syndrome?
A) Presence of a single X chromosome
B) Multiple copies of X chromosomes
C) Normal development of sexual characteristics
D) Presence of male reproductive organs
A) Presence of a single X chromosome
Rationale: The presence of a single X chromosome is a common diagnostic feature for Turner Syndrome, which affects females and impacts their sexual development and fertility.
What is the chromosomal cause of Turner Syndrome?
A) Single X chromosome
B) Extra X chromosome
C) Deletion of part of chromosome 15
D) Translocation of chromosome 21
A) Single X chromosome
Rationale: Turner Syndrome is caused by a missing portion or all of the X chromosome, resulting in a single X chromosome.
What are common clinical manifestations of Turner Syndrome? (SATA)
A) Low posterior hairline
B) Webbing of the neck
C) Tall stature
D) Broad skeletal abnormalities
A) Low posterior hairline
B) Webbing of the neck
D) Broad skeletal abnormalities
Rationale: Common clinical manifestations of Turner Syndrome include a low posterior hairline, webbing of the neck, and broad skeletal abnormalities. Tall stature is not a characteristic feature.
At what stages are most cases of Turner Syndrome diagnosed?
A) Only in adulthood
B) Only in infancy
C) In adolescence, childhood, and neonatal period
D) During prenatal screening only
C) In adolescence, childhood, and neonatal period
Rationale: Diagnoses of Turner Syndrome are commonly made in adolescence, childhood, and the neonatal period, with one-third diagnosed in each of these stages.
What type of therapy is typically given to individuals with Turner Syndrome to induce puberty and stimulate growth?
A) Chemotherapy
B) Hormone replacement therapy
C) Antibiotic therapy
D) Gene therapy
B) Hormone replacement therapy
Rationale: Hormone replacement therapy is typically given to individuals with Turner Syndrome to induce puberty and stimulate continued growth.
Which secondary sex characteristics are underdeveloped in Turner Syndrome? (SATA)
A) Breast development
B) Ovaries
C) Secondary hair growth
D) Testes
A) Breast development
B) Ovaries
C) Secondary hair growth
Rationale: Secondary sex characteristics such as breast development, ovaries, and secondary hair growth are often underdeveloped in Turner Syndrome. Testes are not applicable as the condition affects females only
What is the general intelligence level of most females with Turner Syndrome?
A) Severely impaired
B) Below average
C) Normal intelligence
D) Above average
C) Normal intelligence
Rationale: Most females with Turner Syndrome are of normal intelligence and usually live essentially typical lives, despite their physical and reproductive challenges.
What is the chromosomal pattern of Klinefelter Syndrome?
A) XX
B) XY
C) XXY
D) XYY
C) XXY
Rationale: Klinefelter Syndrome is characterized by the presence of an extra X chromosome, resulting in the XXY chromosomal pattern.
Which population is affected by Klinefelter Syndrome?
A) Females only
B) Both males and females
C) Males only
D) Children only
C) Males only
Rationale: Klinefelter Syndrome affects only males due to the presence of the extra X chromosome.
What impact does the extra X chromosome have on males with Klinefelter Syndrome?
A) Increased testosterone production
B) Abnormal development of the testicles
C) Normal development of the testicles
D) Increased production of sperm
B) Abnormal development of the testicles
Rationale: The extra genetic material causes abnormal development of the testicles, resulting in decreased production of sperm and male sex hormones.
What are common clinical manifestations of Klinefelter Syndrome? (SATA)
A) Mild intellectual disability
B) Small testes
C) Tall stature
D) Abundant facial hair
A) Mild intellectual disability
B) Small testes
C) Tall stature
Rationale: Common clinical manifestations of Klinefelter Syndrome include mild intellectual disability, small testes, and tall stature. Sparse, rather than abundant, facial hair is also a characteristic feature.
What is gynecomastia in the context of Klinefelter Syndrome?
A) Enlarged breast tissue in males
B) Excessive body hair
C) Increased muscle mass
D) Enhanced testosterone levels
A) Enlarged breast tissue in males
Rationale: Gynecomastia refers to the development of enlarged breast tissue in males, which is a common feature of Klinefelter Syndrome.
Which type of therapy can improve symptoms resulting from testosterone deficiency in Klinefelter Syndrome?
A) Chemotherapy
B) Antibiotic therapy
C) Testosterone replacement therapy
D) Gene therapy
C) Testosterone replacement therapy
Rationale: Testosterone replacement therapy can improve symptoms resulting from the deficiency in testosterone in individuals with Klinefelter Syndrome.
What developmental challenges are associated with Klinefelter Syndrome? (SATA)
A) Learning disabilities
B) Delayed speech and language development
C) Increased libido
D) Short stature
A) Learning disabilities
B) Delayed speech and language development
Rationale: Developmental challenges associated with Klinefelter Syndrome include learning disabilities and delayed speech and language development. Decreased, rather than increased, libido and tall stature are also characteristic features.
What surgical intervention may be done to reduce gynecomastia in Klinefelter Syndrome?
A) Hysterectomy
B) Orchiectomy
C) Rhinoplasty
D) Mastectomy
D) Mastectomy
Rationale: Surgery to reduce gynecomastia in males with Klinefelter Syndrome may involve mastectomy, which is the removal of breast tissue.
How is the life expectancy of individuals with Klinefelter Syndrome?
A) Significantly reduced
B) Shortened by a few years
C) Normal
D) Extended
C) Normal
Rationale: The life expectancy of individuals with Klinefelter Syndrome is generally normal, meaning they can live a typical lifespan despite the associated symptoms.
