Chapter 21: Congenital and Genetic Disorders Flashcards
1
Q
- 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) .
A
b. They are numbered pair 23 in the karyotype.
2
Q
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
A
c. Karyotype
3
Q
- 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.
A
d. It is usually manifested in the neonatal
period.
4
Q
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%
A
b. 25%
5
Q
- In the case of an X-linked recessive disorder, a carrier mother and unaffected father could produce a/an:
A
a. normal female.
6
Q
- Down syndrome is an example of a/an:
a. autosomal dominant disorder.
b. multifactorial disorder.
c. developmental defect.
d. chromosomal disorder.
A
d. chromosomal disorder.
7
Q
- Agents that cause damage during embryonic or fetal development are called:
a. teratogenic.
b. mutagenic.
c. multifactorial agents.
d. polygenic agents.
A
a. teratogenic.
8
Q
- What is an example of a multifactorial congenital disorder?
a. Type AB blood
b. Down syndrome
c. Color blindness
d. Cleft lip and
palate
A
d. Cleft lip and
palate
9
Q
- Ultrasonography during pregnancy would be helpful in detecting fetal:
a. enzyme deficits.
b. structural anomalies.
c. chromosomal defects.
d. hormonal abnormalities.
A
b. structural anomalies.
10
Q
- 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.
A
a. The typical physical characteristics are present at birth.
11
Q
- 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.
A
b. There is a test for the defective gene.
12
Q
- 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%
A
b. 50%
13
Q
- 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.
A
b. his mother.
14
Q
- 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
A
c. all of his daughters, who will be carriers.
15
Q
- Which of the following are common manifestations of Down syndrome?
- Congenital heart defect
- Cleft lip and palate
- Large protruding tongue
- Limited intellectual development
a. 1, 2
b. 1, 3
c. 2, 4
d. 1, 3, 4
A
d. 1, 3, 4
