Test Bank For Gould's Pathophysiology for the Health Professions 7th Edition VanMeter 190
Chapter 21: Congenital and Genetic Disorders
VanMeter and Hubert: Gould’s Pathophysiology for the Health Professions, 7th
Edition
MULTIPLE CHOICE
1. Which of the following statements applies to the sex chromosomes?
a. They are identified as XY in the female.
b. They are numbered pair 23 in the karyotype.
c. They contain the same genes as in the other pairs of chromosomes.
d. They are found only in the cells in the gonads (the ovaries and the testes).
ANS> B
2. What is the term for an arrangement of the chromosomes from an individual’s cell, organized
in pairs based on size and shape?
a. Pedigree
b. Punnett squares
c. Karyotype
d. Genotype
ANS> C
3. What is characteristic of a congenital disorder?
a. Genes are not involved.
b. It is strictly a developmental anomaly.
c. A cause is known.
d. It is usually manifested in the neonatal period.
ANS> D
4. What is the probability of two parents, both carriers of a defective recessive gene, producing a
homozygous child (with each pregnancy)?
a. 0%
b. 25%
c. 50%
d. 75%
ANS> B
5. In the case of an X-linked recessive disorder, a carrier mother and unaffected father could
produce a/an
a. normal female.
b. affected female.
c. male carrier.
d. female carrier.
ANS> A
6. Down syndrome is an example of a/an
a. autosomal dominant disorder.
,Test Bank For Gould's Pathophysiology for the Health Professions 7th Edition VanMeter 191
b. multifactorial disorder.
c. developmental defect.
d. chromosomal disorder.
ANS> D
7. Agents that cause damage during embryonic or fetal development are called
a. teratogenic.
b. mutagenic.
c. multifactorial agents.
d. polygenic agents.
ANS> A
8. What is an example of a multifactorial congenital disorder?
a. Type AB blood
b. Down syndrome
c. Color blindness
d. Cleft lip and palate
ANS> D
9. Ultrasonography during pregnancy would be helpful in detecting fetal
a. enzyme deficits.
b. structural anomalies.
c. chromosomal defects.
d. hormonal abnormalities.
ANS> B
10. Which of the following statements regarding Down syndrome is TRUE?
a. The typical physical characteristics are present at birth.
b. All children with Down syndrome have the same organ defects and medical
problems.
c. The extent of cognitive impairment can be assessed at birth.
d. The birth of a child with Down syndrome is only a risk to mothers over age 35.
ANS> A
11. Which of the following statements applies to Huntington’s disease?
a. The effects are obvious at birth.
b. There is a test for the defective gene.
c. There is a 50% probability that the child of an affected parent will be a carrier.
d. The child must inherit the defective gene from both parents in order to be affected.
ANS> B
12. A mother is a carrier of Duchenne muscular dystrophy; the father is unaffected. They have
one son with muscular dystrophy. Another male child is expected. The probability of the
second son having muscular dystrophy is
a. 100%.
b. 50%.
c. 25%.
, Test Bank For Gould's Pathophysiology for the Health Professions 7th Edition VanMeter 192
d. 0%.
ANS> B
13. Hemophilia A has been diagnosed in a young boy. He has inherited this defective gene from
a. his father.
b. his mother.
c. both parents.
d. neither parent.
ANS> B
14. A father affected with hemophilia A, whose wife is unaffected, will pass on the defective gene
to
a. all of his sons, who will be affected.
b. 50% of his sons, who will be affected.
c. all of his daughters, who will be carriers.
d. 50% of his daughters, who will be carriers.
ANS> C
15. Which of the following are common manifestations of Down syndrome?
1. Congenital heart defect
2. Cleft lip and palate
3. Large protruding tongue
4. Limited intellectual development
a. 1, 2
b. 1, 3
c. 2, 4
d. 1, 3, 4
ANS> D
16. A spontaneous alteration in genetic material that may result from exposure to harmful
substances is termed
a. autosome.
b. genotype.
c. meiosis.
d. mutation.
ANS> D
17. A person with sickle cell trait that is heterozygous has
a. an incomplete dominant gene.
b. a multifactorial condition.
c. co-dominant genes.
d. X-linked dominant trait.
ANS> A
18. TORCH is an acronym for routine prenatal screening tests for high-risk maternal infections;
TORCH stands for
a. toxoplasmosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis),
Chapter 21: Congenital and Genetic Disorders
VanMeter and Hubert: Gould’s Pathophysiology for the Health Professions, 7th
Edition
MULTIPLE CHOICE
1. Which of the following statements applies to the sex chromosomes?
a. They are identified as XY in the female.
b. They are numbered pair 23 in the karyotype.
c. They contain the same genes as in the other pairs of chromosomes.
d. They are found only in the cells in the gonads (the ovaries and the testes).
ANS> B
2. What is the term for an arrangement of the chromosomes from an individual’s cell, organized
in pairs based on size and shape?
a. Pedigree
b. Punnett squares
c. Karyotype
d. Genotype
ANS> C
3. What is characteristic of a congenital disorder?
a. Genes are not involved.
b. It is strictly a developmental anomaly.
c. A cause is known.
d. It is usually manifested in the neonatal period.
ANS> D
4. What is the probability of two parents, both carriers of a defective recessive gene, producing a
homozygous child (with each pregnancy)?
a. 0%
b. 25%
c. 50%
d. 75%
ANS> B
5. In the case of an X-linked recessive disorder, a carrier mother and unaffected father could
produce a/an
a. normal female.
b. affected female.
c. male carrier.
d. female carrier.
ANS> A
6. Down syndrome is an example of a/an
a. autosomal dominant disorder.
,Test Bank For Gould's Pathophysiology for the Health Professions 7th Edition VanMeter 191
b. multifactorial disorder.
c. developmental defect.
d. chromosomal disorder.
ANS> D
7. Agents that cause damage during embryonic or fetal development are called
a. teratogenic.
b. mutagenic.
c. multifactorial agents.
d. polygenic agents.
ANS> A
8. What is an example of a multifactorial congenital disorder?
a. Type AB blood
b. Down syndrome
c. Color blindness
d. Cleft lip and palate
ANS> D
9. Ultrasonography during pregnancy would be helpful in detecting fetal
a. enzyme deficits.
b. structural anomalies.
c. chromosomal defects.
d. hormonal abnormalities.
ANS> B
10. Which of the following statements regarding Down syndrome is TRUE?
a. The typical physical characteristics are present at birth.
b. All children with Down syndrome have the same organ defects and medical
problems.
c. The extent of cognitive impairment can be assessed at birth.
d. The birth of a child with Down syndrome is only a risk to mothers over age 35.
ANS> A
11. Which of the following statements applies to Huntington’s disease?
a. The effects are obvious at birth.
b. There is a test for the defective gene.
c. There is a 50% probability that the child of an affected parent will be a carrier.
d. The child must inherit the defective gene from both parents in order to be affected.
ANS> B
12. A mother is a carrier of Duchenne muscular dystrophy; the father is unaffected. They have
one son with muscular dystrophy. Another male child is expected. The probability of the
second son having muscular dystrophy is
a. 100%.
b. 50%.
c. 25%.
, Test Bank For Gould's Pathophysiology for the Health Professions 7th Edition VanMeter 192
d. 0%.
ANS> B
13. Hemophilia A has been diagnosed in a young boy. He has inherited this defective gene from
a. his father.
b. his mother.
c. both parents.
d. neither parent.
ANS> B
14. A father affected with hemophilia A, whose wife is unaffected, will pass on the defective gene
to
a. all of his sons, who will be affected.
b. 50% of his sons, who will be affected.
c. all of his daughters, who will be carriers.
d. 50% of his daughters, who will be carriers.
ANS> C
15. Which of the following are common manifestations of Down syndrome?
1. Congenital heart defect
2. Cleft lip and palate
3. Large protruding tongue
4. Limited intellectual development
a. 1, 2
b. 1, 3
c. 2, 4
d. 1, 3, 4
ANS> D
16. A spontaneous alteration in genetic material that may result from exposure to harmful
substances is termed
a. autosome.
b. genotype.
c. meiosis.
d. mutation.
ANS> D
17. A person with sickle cell trait that is heterozygous has
a. an incomplete dominant gene.
b. a multifactorial condition.
c. co-dominant genes.
d. X-linked dominant trait.
ANS> A
18. TORCH is an acronym for routine prenatal screening tests for high-risk maternal infections;
TORCH stands for
a. toxoplasmosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis),
