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
16
Q
- A spontaneous alteration in genetic material that may result from exposure to harmful substances is termed:
a. autosome.
b. genotype.
c. meiosis.
d. mutation.
A
d. mutation.
17
Q
- 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.
A
a. an incomplete dominant gene.
18
Q
- 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), rubella,
cytomegalovirus, and herpes.
b. tuberculosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis), rabies,
cytomegalovirus, and HIV.
c. toxoplasmosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis), rabies,
cytomegalovirus, and HIV.
d. tuberculosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis), rabies,
cytomegalovirus, and herpes.
A
a. toxoplasmosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis), rubella,
cytomegalovirus, and herpes.
19
Q
- Which statement applies to the effects of exposure to harmful substances during embryonic life?
- During the first two weeks, exposure will usually cause death of the embryo.
- Organs or body structures may be altered by exposure during the first two months.
- The effects of exposure depend on the stage of development at the time of exposure.
- Metabolic abnormalities usually follow exposure to teratogens.
a. 1, 3
b. 2, 4
c. 1, 2, 3
A
c. 1, 2, 3
20
Q
- Exposure to cocaine during pregnancy leads to increased risk of:
a. premature birth.
b. respiratory problems.
c. sudden infant death
syndrome.
d. A, B, and C
A
d. A, B, and C
21
Q
- Which term refers to prenatal diagnosis through examination of amniotic fluid?
a. Chorionic villus testing
b. Preparing a family
pedigree
c. Amniocentesis
d. Triple-screen test
A
c. Amniocentesis
22
Q
- The laboratory practice of changing DNA sequences in microorganisms is called:
a. the genotype.
b. gene mutation.
c. genetic engineering.
d. gene therapy.
A
c. genetic engineering.
23
Q
- The purpose of the Human Genome Project was to:
a. map the nucleotide sequence and identify the genes on each human
chromosome.
b. study the common patterns of inheritance of single-gene disorders.
A
a. map the nucleotide sequence and identify the genes on each human
chromosome.
24
Q
- Developmental disorders can result from all the following EXCEPT:
a. exposure to radiation.
b. mercury in foods and water.
c. drugs and alcohol.
d. folic acid.
A
d. folic acid.
25
```
25. Genes located at the same site on a pair of homologous chromosomes that are also matched for function are
called:
a. alleles.
b. genotypes.
c. autosomes.
d. phenotypes.
```
a. alleles.
26
26. Which of the following can easily pass through the placental barrier?
a. Many viruses
b. Some heavy
metals
c. Certain chemicals
d. All of the above
d. All of the above
27
27. The term proteomics refers to the study of:
a. DNA sequences with unknown functions.
b. gene sequences in individual chromosomes.
c. the proteins resulting from activation of specific
genes.
d. identifying certain base pairs in DNA.
c. the proteins resulting from activation of specific
| genes.
28
28. The most invasive prenatal screening test for fetal abnormalities is:
a. ultrasonography.
b. amniocentesis.
c. X-ray.
d. blood tests.
b. amniocentesis.
29
29. Which of the following can be detected using amniotic fluid?
a. Chromosomal abnormalities
b. Metabolic disorders
c. Certain structural abnormalities
d. All the above
d. All the above
30
30. Blood tests are performed on neonates primarily to:
a. determine need for immediate surgical correction of
anomalies.
b. identify disorders requiring immediate treatment.
c. identify the presence of any inherited disorders.
d. rule out the presence of any infection.
b. identify disorders requiring immediate treatment.
31
31. When genetic influences combine with environmental factors to cause an abnormality, the result is called a:
a. chromosomal disorder.
b. developmental disorder.
c. multifactorial disorder.
d. single-gene disorder.
c. multifactorial disorder.
32
32. The cellular division process that produces the chromosomes that are in the sperm and ova is called:
a. meiosis.
b. mitosis.
c. organogenesis.
d. polysomy.
a. meiosis.
