PATHOPHYSIOLOGY EXAM 1 STUDY GUIDE
2025 QUESTIONS WITH VERIFIED ANSWERS
◉ An error in which homologous chromosomes fail to separate
during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia. Answer: 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.
D) a haploid cell. 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 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. Answer: b
◉ The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations. 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. 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 Answer: 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. 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. 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.
C) expressivity.
D) delayed age of onset. Answer: 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. Answer: b
◉ Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
2025 QUESTIONS WITH VERIFIED ANSWERS
◉ An error in which homologous chromosomes fail to separate
during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia. Answer: 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.
D) a haploid cell. 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 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. Answer: b
◉ The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations. 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. 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 Answer: 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. 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. 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.
C) expressivity.
D) delayed age of onset. Answer: 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. Answer: b
◉ Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
