Congenital And Genetic Disorders

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Question 1
Free
Multiple Choice

Which of the following statements applies to the sex chromosomes?

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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).

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Question 2
Free
Multiple Choice

What is the term for an arrangement of the chromosomes from an individual's cell, organized in pairs based on size and shape?

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A

Pedigree

B

Punnett squares

C

Karyotype

D

Genotype

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Question 3
Free
Multiple Choice

What is characteristic of a congenital disorder?

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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.

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Question 4
Free
Multiple Choice

What is the probability of two parents, both carriers of a defective recessive gene, producing a homozygous child (with each pregnancy)?

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A

0%

B

25%

C

50%

D

75%

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Question 5
Free
Multiple Choice

In the case of an X-linked recessive disorder, a carrier mother and unaffected father could produce a/an:

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A

normal female.

B

affected female.

C

male carrier.

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Question 6
Multiple Choice

Down syndrome is an example of a/an:

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A
autosomal dominant disorder.
B
multifactorial disorder.
C
developmental defect.
D
chromosomal disorder.
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Question 7
Multiple Choice

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

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A
teratogenic.
B
mutagenic.
C
multifactorial agents.
D
polygenic agents.
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Question 8
Multiple Choice

What is an example of a multifactorial congenital disorder?

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A
Type AB blood
B
Down syndrome
C
Color blindness
D
Cleft lip and palate
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Question 9
Multiple Choice

Ultrasonography during pregnancy would be helpful in detecting fetal:

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A
enzyme deficits.
B
structural anomalies.
C
chromosomal defects.
D
hormonal abnormalities.
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Question 10
Multiple Choice

Which of the following statements regarding Down syndrome is TRUE?

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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.
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Question 11
Multiple Choice

Which of the following statements applies to Huntington's disease?

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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.
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Question 12
Multiple Choice

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:

Choose correct answer/s
A
100%
B
50%
C
25%
D
0%
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Question 13
Multiple Choice

Hemophilia A has been diagnosed in a young boy. He has inherited this defective gene from:

Choose correct answer/s
A
his father.
B
his mother.
C
both parents.
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Question 14
Multiple Choice

A father affected with hemophilia A, whose wife is unaffected, will pass on the defective gene to:

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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.
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Question 15
Multiple Choice

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

Choose correct answer/s
A
autosome.
B
genotype.
C
meiosis.
D
mutation.
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Question 16
Multiple Choice

A person with sickle cell trait that is heterozygous has:

Choose correct answer/s
A
an incomplete dominant gene.
B
a multifactorial condition.
C
co-dominant genes.
D
X-linked dominant trait.
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Question 17
Multiple Choice

TORCH is an acronym for routine prenatal screening tests for high-risk maternal infections; TORCH stands for:

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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.
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Question 18
Multiple Choice

Exposure to cocaine during pregnancy leads to increased risk of:

Choose correct answer/s
A
premature birth.
B
respiratory problems.
C
sudden infant death syndrome.
D
A, B, and C
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Question 19
Multiple Choice

Which term refers to prenatal diagnosis through examination of amniotic fluid?

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A
Chorionic villus testing
B
Preparing a family pedigree
C
Amniocentesis
D
Triple-screen test
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Question 20
Multiple Choice

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

Choose correct answer/s
A
the genotype.
B
gene mutation.
C
genetic engineering.
D
gene therapy.
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