PATHOPHYSIOLOGY EXAM 1 PRACTICE
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. - (Answer)c
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
D) autosomal recessive - (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. - (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. - (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 - (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 - (Answer)d
A 5-year-old male presents with mental retardation and is diagnosed with Fragile X
syndrome. Which of the following is most likely to cause this syndrome?
A) Translocation
B) Inversion
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. - (Answer)c
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
D) autosomal recessive - (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. - (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. - (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 - (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 - (Answer)d
A 5-year-old male presents with mental retardation and is diagnosed with Fragile X
syndrome. Which of the following is most likely to cause this syndrome?
A) Translocation
B) Inversion
