Pathophysiology Exam 1 2026/2027
With Questions And Answers Written
Correctly
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
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
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
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.
C) expressivity.
D) delayed age of onset. - correct 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. - correct answer<✔✔💖💖b
Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
, D) autosomal recessive - correct answer<✔✔💖💖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. - correct answer<✔✔💖💖b
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
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
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
With Questions And Answers Written
Correctly
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
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
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
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.
C) expressivity.
D) delayed age of onset. - correct 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. - correct answer<✔✔💖💖b
Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
, D) autosomal recessive - correct answer<✔✔💖💖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. - correct answer<✔✔💖💖b
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
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
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
