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NURS 5315 Advanced Pathophysiology – (Exam 2) 50 Original Questions with
Answers and Rationales UPDATED!!!
Genetics, Immunity, Inflammation, and Infection
1. A man with an autosomal dominant disorder marries a
woman who does not have the disorder. What is the
probability that their child will inherit the disorder?
A) 0%
B) 25%
C) 50%
D) 100%
Answer: C) 50%
Rationale: Autosomal dominant conditions require only one
mutated allele. If one parent is heterozygous affected, each
child has a 50% chance of inheriting the affected allele.
2. A female carrier of an X-linked recessive disorder has a
son. What is the chance that the son will be affected?
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A) 0%
B) 25%
C) 50%
D) 100%
Answer: C) 50%
Rationale: A carrier mother has one normal X and one
mutated X. Each son has a 50% chance of receiving the
mutated X and being affected.
3. Which of the following is an example of an autosomal
recessive disorder?
A) Huntington disease
B) Marfan syndrome
C) Cystic fibrosis
D) Neurofibromatosis type 1
Answer: C) Cystic fibrosis
Rationale: Cystic fibrosis requires two copies of the mutated
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CFTR gene. Huntington, Marfan, and NF1 are autosomal
dominant.
4. A child is diagnosed with trisomy 21 (Down syndrome).
The most likely cause is:
A) Nondisjunction during meiosis
B) Balanced translocation in parents
C) Mosaicism
D) Deletion of chromosome 21
Answer: A) Nondisjunction during meiosis
Rationale: The most common cause of Down syndrome is
meiotic nondisjunction leading to an extra copy of
chromosome 21.
5. Klinefelter syndrome is characterized by which karyotype?
A) 45,X
B) 47,XXY
C) 47,XYY
D) 46,XY with deletion
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NURS 5315 Advanced Pathophysiology – (Exam 2) 50 Original Questions with
Answers and Rationales UPDATED!!!
Genetics, Immunity, Inflammation, and Infection
1. A man with an autosomal dominant disorder marries a
woman who does not have the disorder. What is the
probability that their child will inherit the disorder?
A) 0%
B) 25%
C) 50%
D) 100%
Answer: C) 50%
Rationale: Autosomal dominant conditions require only one
mutated allele. If one parent is heterozygous affected, each
child has a 50% chance of inheriting the affected allele.
2. A female carrier of an X-linked recessive disorder has a
son. What is the chance that the son will be affected?
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, Page |2
A) 0%
B) 25%
C) 50%
D) 100%
Answer: C) 50%
Rationale: A carrier mother has one normal X and one
mutated X. Each son has a 50% chance of receiving the
mutated X and being affected.
3. Which of the following is an example of an autosomal
recessive disorder?
A) Huntington disease
B) Marfan syndrome
C) Cystic fibrosis
D) Neurofibromatosis type 1
Answer: C) Cystic fibrosis
Rationale: Cystic fibrosis requires two copies of the mutated
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, Page |3
CFTR gene. Huntington, Marfan, and NF1 are autosomal
dominant.
4. A child is diagnosed with trisomy 21 (Down syndrome).
The most likely cause is:
A) Nondisjunction during meiosis
B) Balanced translocation in parents
C) Mosaicism
D) Deletion of chromosome 21
Answer: A) Nondisjunction during meiosis
Rationale: The most common cause of Down syndrome is
meiotic nondisjunction leading to an extra copy of
chromosome 21.
5. Klinefelter syndrome is characterized by which karyotype?
A) 45,X
B) 47,XXY
C) 47,XYY
D) 46,XY with deletion
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