Pathophysiology Exam 1
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. - answersc
An error in which homologous chromosomes fail to separate during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia. - answersb
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. - answersa
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 - answersc
,Pathophysiology Exam 1
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. - answersb
The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations. - answersc
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. - answersd
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.
,Pathophysiology Exam 1
D) Edward syndrome - answersc
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. - answersc
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. - answersd
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. - answersd
People who have neurofibromatosis will show varying degrees of the disease; this is because of the
genetic principle of:
, Pathophysiology Exam 1
A) penetrance.
B) expressivity.
C) dominance.
D) recessiveness. - answersb
Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive - answered
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. - answersb
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. - answersb
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. - answersc
An error in which homologous chromosomes fail to separate during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia. - answersb
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. - answersa
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 - answersc
,Pathophysiology Exam 1
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. - answersb
The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations. - answersc
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. - answersd
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.
,Pathophysiology Exam 1
D) Edward syndrome - answersc
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. - answersc
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. - answersd
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. - answersd
People who have neurofibromatosis will show varying degrees of the disease; this is because of the
genetic principle of:
, Pathophysiology Exam 1
A) penetrance.
B) expressivity.
C) dominance.
D) recessiveness. - answersb
Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive - answered
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. - answersb
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. - answersb
