Pathophysiology Exam 1
(Latest 2025-2026 Edition) 100% Verified Q&A + Answer
230+
Key Solutions
VERIFIED ANSWERS
Question 1
An ordered photographic display of a set of chromosomes from a single cell is a(n):
A) metaphase spread.
B) autosomal spread.
C) karyotype.
D) anaphase spread.
Correct Answer
c
Question 2
An error in which homologous chromosomes fail to separate during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia.
Correct Answer
b
Question 3
A somatic cell that does not contain a multiple of 23 chromosomes is called:
A) an aneuploid cell.
B) a euploid cell.
C) a polyploidy cell.
D) a haploid cell.
Correct Answer
a
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,Question 4
A 20-year-old pregnant female gives birth to a stillborn child. Autopsy reveals that the fetus has 92 chromosomes. Which of
the following describes this condition?
A) Euploidy
B) Triploidy
C) Tetraploidy
D) Aneuploidy
Correct Answer
c
Question 5
If a person is a chromosomal mosaic, the person may:
A) be a carrier of the genetic disease.
B) have a mild form of the genetic disease.
C) have two genetic diseases.
D) be sterile as a result of the genetic disease.
Correct Answer
b
Question 6
The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations.
Correct Answer
c
Question 7
Risk factors for Down syndrome include:
A) fetal exposure to mutagens in the uterus.
B) increased paternal age.
C) family history of Down syndrome.
D) pregnancy in women over age 35.
Correct Answer
d
Question 8
A 13-year-old girl has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome
present. Her condition is called:
A) Down syndrome.
B) Cri du chat syndrome.
C) Turner syndrome.
D) Edward syndrome
Correct Answer
c
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,Question 9
A child is diagnosed with cystic fibrosis. History reveals that the child's parents are first cousins. Cystic fibrosis was most
likely the result of:
A) X inactivation.
B) genomic imprinting.
C) consanguinity.
D) obligate carriers.
Correct Answer
c
Question 10
Joey, age 9, is admitted to a pediatric unit with Duchenne muscular dystrophy. He inherited this condition through a:
A) sex-linked dominant trait.
B) sex-influenced trait.
C) sex-limited trait.
D) sex-linked recessive trait.
Correct Answer
d
Question 11
A 50-year-old male was recently diagnosed with Huntington disease. Transmission of this disease is associated with:
A) penetrance.
B) recurrence risk.
C) expressivity.
D) delayed age of onset.
Correct Answer
d
Question 12
People who have neurofibromatosis will show varying degrees of the disease; this is because of the genetic principle of:
A) penetrance.
B) expressivity.
C) dominance.
D) recessiveness.
Correct Answer
b
Question 13
Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive
Correct Answer
d
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, Question 14
To express a polygenic trait:
A) genes must interact with the environment.
B) several genes must act together.
C) multiple mutations must occur in the same family.
D) in situ cloning must occur.
Correct Answer
b
Question 15
The gradual increase in height among the human population over the past 100 years is an example of:
A) polygenic trait.
B) multifactorial trait.
C) crossing over.
D) recombination.
Correct Answer
b
Question 16
A couple has three offspring: one child with an autosomal dominant disease trait and two who are normal. The father is
affected by the autosomal dominant disease, but the mother does not have the disease gene. What is the recurrence risk of
this autosomal dominant disease for their next child?
A) 50%
B) 33%
C) 25%
D) Impossible to determine
Correct Answer
a
Question 17
A 12-year-old male is diagnosed with Klinefelter syndrome. His karyotype would reveal which of the following?
A) XY
B) XX
C) XYY
D) XXY
Correct Answer
d
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(Latest 2025-2026 Edition) 100% Verified Q&A + Answer
230+
Key Solutions
VERIFIED ANSWERS
Question 1
An ordered photographic display of a set of chromosomes from a single cell is a(n):
A) metaphase spread.
B) autosomal spread.
C) karyotype.
D) anaphase spread.
Correct Answer
c
Question 2
An error in which homologous chromosomes fail to separate during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia.
Correct Answer
b
Question 3
A somatic cell that does not contain a multiple of 23 chromosomes is called:
A) an aneuploid cell.
B) a euploid cell.
C) a polyploidy cell.
D) a haploid cell.
Correct Answer
a
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,Question 4
A 20-year-old pregnant female gives birth to a stillborn child. Autopsy reveals that the fetus has 92 chromosomes. Which of
the following describes this condition?
A) Euploidy
B) Triploidy
C) Tetraploidy
D) Aneuploidy
Correct Answer
c
Question 5
If a person is a chromosomal mosaic, the person may:
A) be a carrier of the genetic disease.
B) have a mild form of the genetic disease.
C) have two genetic diseases.
D) be sterile as a result of the genetic disease.
Correct Answer
b
Question 6
The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations.
Correct Answer
c
Question 7
Risk factors for Down syndrome include:
A) fetal exposure to mutagens in the uterus.
B) increased paternal age.
C) family history of Down syndrome.
D) pregnancy in women over age 35.
Correct Answer
d
Question 8
A 13-year-old girl has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome
present. Her condition is called:
A) Down syndrome.
B) Cri du chat syndrome.
C) Turner syndrome.
D) Edward syndrome
Correct Answer
c
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,Question 9
A child is diagnosed with cystic fibrosis. History reveals that the child's parents are first cousins. Cystic fibrosis was most
likely the result of:
A) X inactivation.
B) genomic imprinting.
C) consanguinity.
D) obligate carriers.
Correct Answer
c
Question 10
Joey, age 9, is admitted to a pediatric unit with Duchenne muscular dystrophy. He inherited this condition through a:
A) sex-linked dominant trait.
B) sex-influenced trait.
C) sex-limited trait.
D) sex-linked recessive trait.
Correct Answer
d
Question 11
A 50-year-old male was recently diagnosed with Huntington disease. Transmission of this disease is associated with:
A) penetrance.
B) recurrence risk.
C) expressivity.
D) delayed age of onset.
Correct Answer
d
Question 12
People who have neurofibromatosis will show varying degrees of the disease; this is because of the genetic principle of:
A) penetrance.
B) expressivity.
C) dominance.
D) recessiveness.
Correct Answer
b
Question 13
Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive
Correct Answer
d
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, Question 14
To express a polygenic trait:
A) genes must interact with the environment.
B) several genes must act together.
C) multiple mutations must occur in the same family.
D) in situ cloning must occur.
Correct Answer
b
Question 15
The gradual increase in height among the human population over the past 100 years is an example of:
A) polygenic trait.
B) multifactorial trait.
C) crossing over.
D) recombination.
Correct Answer
b
Question 16
A couple has three offspring: one child with an autosomal dominant disease trait and two who are normal. The father is
affected by the autosomal dominant disease, but the mother does not have the disease gene. What is the recurrence risk of
this autosomal dominant disease for their next child?
A) 50%
B) 33%
C) 25%
D) Impossible to determine
Correct Answer
a
Question 17
A 12-year-old male is diagnosed with Klinefelter syndrome. His karyotype would reveal which of the following?
A) XY
B) XX
C) XYY
D) XXY
Correct Answer
d
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