PATHOPHYSIOLOGY EXAM 1
QUESTIONS AND ANSWERS 100% PASS
2026/2027
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. - ANS c
An error in which homologous chromosomes fail to separate during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia. - ANS b
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.
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,D) a haploid cell. - ANS 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 - ANS 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. - ANS b
The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations. - ANS 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.
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,D) pregnancy in women over age 35. - ANS 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 - ANS c
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. - ANS 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. - ANS d
A 50-year-old male was recently diagnosed with Huntington disease. Transmission of this
disease is associated with:
A) penetrance.
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, B) recurrence risk.
C) expressivity.
D) delayed age of onset. - ANS d
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. - ANS b
Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive - ANS d
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. - ANS b
The gradual increase in height among the human population over the past 100 years is an
example of:
2026/2027 ALLRIGHTS RESERVED 4
QUESTIONS AND ANSWERS 100% PASS
2026/2027
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. - ANS c
An error in which homologous chromosomes fail to separate during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia. - ANS b
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.
2026/2027 ALLRIGHTS RESERVED 1
,D) a haploid cell. - ANS 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 - ANS 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. - ANS b
The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations. - ANS 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.
2026/2027 ALLRIGHTS RESERVED 2
,D) pregnancy in women over age 35. - ANS 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 - ANS c
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. - ANS 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. - ANS d
A 50-year-old male was recently diagnosed with Huntington disease. Transmission of this
disease is associated with:
A) penetrance.
2026/2027 ALLRIGHTS RESERVED 3
, B) recurrence risk.
C) expressivity.
D) delayed age of onset. - ANS d
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. - ANS b
Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive - ANS d
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. - ANS b
The gradual increase in height among the human population over the past 100 years is an
example of:
2026/2027 ALLRIGHTS RESERVED 4
