Pathophysiology Exam 1 COMPREHENSIVE
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An ordered photographic c
display of a set of
chromosomes from a
single cell is a(n):
A) metaphase spread.
B) autosomal spread.
C) karyotype.
D) anaphase spread.
An error in which b
homologous
chromosomes fail to
separate during meiosis is
termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia.
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A somatic cell that does a
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.
A 20-year-old pregnant c
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
If a person is a b
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.
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The most common cause c
of Down syndrome is:
A) paternal
nondisjunction.
B) maternal translocations.
C) maternal
nondisjunction.
D) paternal translocations.
Risk factors for Down d
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.
A 13-year-old girl has a c
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
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A child is diagnosed with c
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.
Joey, age 9, is admitted to d
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.
A 50-year-old male was d
recently diagnosed with
Huntington disease.
Transmission of this
disease is associated with:
A) penetrance.
B) recurrence risk.
C) expressivity.
D) delayed age of onset.
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