Pathophysiology Exam 1

Pathophysiology Exam 1 nm nm


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1.An ordered photographic display of a set of chromosomes from a sin
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gle cell is a(n):
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A) metaphase spread. nm

B) autosomal spread. nm

C) karyotype.
D) anaphase spread.: c nm nm

2.An error in which homologous chromosomes fail to separate during
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meiosis is termed: nm nm

A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia.: b nm

3.A somatic cell that does not contain a multiple of 23 chromosomes is
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called:
A) an aneuploid cell.
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B) a euploid cell.
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C) a polyploidy cell.
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D) a haploid cell.: a
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4.A 20-year-
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old pregnant female gives birth to a stillborn child. Autopsy reveals th
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at the fetus has 92 chromosomes. Which of the following describes thi
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s condition?
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A) Euploidy
B) Triploidy
C) Tetraploidy
D) Aneuploidy: c nm

5.If a person is a chromosomal mosaic, the person may:
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A) be a carrier of the genetic disease.
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B) have a mild form of the genetic disease.
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C) have two genetic diseases.
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D) be sterile as a result of the genetic disease.: b
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6.The most common cause of Down syndrome is:
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A) paternal nondisjunction. nm

B) maternal translocations. nm

C) maternal nondisjunction. nm

D) paternal translocations.: c
nm nm

7.Risk factors for Down syndrome include:
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A) fetal exposure to mutagens in the uterus.
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B) increased paternal age. nm nm



1nm/
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, Pathophysiology Exam 1
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C) quizlet.com/_fc6ww
family nmhistorynmofnmDownnmsyndrome.

D) pregnancy in women over age 35.: d
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, Pathophysiology Exam 1 nm nm


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8.A 13-year-
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old girl has a karyotype that reveals an absent homologous X chro
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mosome with only a single X chromosome present. Her condition i
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s called:
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A) Down syndrome. nm

B) Cri du chat syndrome.
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C) Turner syndrome. nm

D) Edward syndrome: c nm nm

9.A child is diagnosed with cystic fibrosis. History reveals that the
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child's parents are first cousins. Cystic fibrosis was most likely the
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mresult of: nm

A) X inactivation.
nm

B) genomic imprinting. nm

C) consanguinity.
D) obligate carriers.: c nm nm

10.Joey, age 9, is admitted to a pediatric unit with Duchenne muscul
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ar dys- trophy. He inherited this condition through a:
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A) sex-linked dominant trait. nm nm

B) sex-influenced trait. nm

C) sex-limited trait. nm

D) sex-linked recessive trait.: d nm nm nm

11. A 50-year- nm

old male was recently diagnosed with Huntington disease. Trans-
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nmmission of this disease is associated with:
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A) penetrance.
B) recurrence risk. nm

C) expressivity.
D) delayed age of onset.: d nm nm nm nm

12.People who have neurofibromatosis will show varying degrees
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of the disease; this is because of the genetic principle of:
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A) penetrance.
B) expressivity.
C) dominance.
D) recessiveness.: b nm

13.Cystic fibrosis is caused by an
nm gene. nm nm nm nm nm

A) X-linked dominant nm

B) X-linked recessive nm

C) autosomal dominant nm

D) autosomal recessive: d nm nm



3nm/
nm50

, Pathophysiology Exam 1
nm nm


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expressnmanmpolygenicnmtrait:
A) genes must interact with the environment.
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B) several genes must act together.
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