Pathophysiology Exam 1 2026 Questions
and Answers
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
An error in which homologous chromosomes fail to separate during meiosis is
termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia. - Correct answer-b
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,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
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
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
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,The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations. - Correct answer-c
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
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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, 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
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
A 50-year-old male was recently diagnosed with Huntington disease. Transmission
of this disease is associated with:
A) penetrance.
B) recurrence risk.
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and Answers
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
An error in which homologous chromosomes fail to separate during meiosis is
termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia. - Correct answer-b
©COPYRIGHT 2025, ALL RIGHTS RESERVED 1
,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
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
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
©COPYRIGHT 2025, ALL RIGHTS RESERVED 2
,The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations. - Correct answer-c
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
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
©COPYRIGHT 2025, ALL RIGHTS RESERVED 3
, 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
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
A 50-year-old male was recently diagnosed with Huntington disease. Transmission
of this disease is associated with:
A) penetrance.
B) recurrence risk.
©COPYRIGHT 2025, ALL RIGHTS RESERVED 4
