Deck 21: Congenital and Genetic Disorders

Question 1

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.

Answer 1

It is usually manifested in the neonatal period.

Question 2

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

Answer 2

1, 3, 4

Question 3

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.

Answer 3

There is a test for the defective gene.

Question 4

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.

Question 5

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.

Question 6

A spontaneous alteration in genetic material that may result from exposure to harmful substances is termed:

A) autosome.
B) genotype.
C) meiosis.
D) mutation.

Question 7

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).

Question 8

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.

Question 9

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%

Question 10

Down syndrome is an example of a/an:

A) autosomal dominant disorder.
B) multifactorial disorder.
C) developmental defect.
D) chromosomal disorder.

Question 11

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.

Question 12

Which statement applies to the effects of exposure to harmful substances during embryonic life?
1) During the first two weeks, exposure will usually cause death of the embryo.
2) Organs or body structures may be altered by exposure during the first two months.
3) The effects of exposure depend on the stage of development at the time of exposure.
4) Metabolic abnormalities usually follow exposure to teratogens.

A) 1, 3
B) 2, 4
C) 1, 2, 3
D) 2, 3, 4

Question 13

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%
D) 0%

Question 14

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

Question 15

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

Question 16

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.

Question 17

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.

Question 18

What is an example of a multifactorial congenital disorder?

A) Type AB blood
B) Down syndrome
C) Color blindness
D) Cleft lip and palate

Question 19

Agents that cause damage during embryonic or fetal development are called:

A) teratogenic.
B) mutagenic.
C) multifactorial agents.
D) polygenic agents.

Question 20

Ultrasonography during pregnancy would be helpful in detecting fetal:

A) enzyme deficits.
B) structural anomalies.
C) chromosomal defects.
D) hormonal abnormalities.

Question 21

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

Question 22

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.

Question 23

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.
C) manipulate the sequence of DNA in microorganisms and animals.
D) identify spontaneous alterations in genetic material caused by teratogens.

Question 24

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.

Question 25

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.

Question 26

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.

Question 27

Which of the following can be detected using amniotic fluid?

A) Chromosomal abnormalities
B) Metabolic disorders
C) Certain structural abnormalities
D) All the above

Question 28

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

Question 29

The laboratory practice of changing DNA sequences in microorganisms is called:

A) the genotype.
B) gene mutation.
C) genetic engineering.
D) gene therapy.

Question 30

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.

Question 31

The most invasive prenatal screening test for fetal abnormalities is:

A) ultrasonography.
B) amniocentesis.
C) X-ray.
D) blood tests.

Question 32

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.