Pathophysiology Exam 1
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1. An ordered photographic c
display of a set of chromo-
somes from a single cell is
a(n):
A) metaphase spread.
B) autosomal spread.
C) karyotype.
D) anaphase spread.
2. An error in which homolo- b
gous chromosomes fail to
separate during meiosis is
termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia.
3. 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.
4. A 20-year-old pregnant fe- c
male gives birth to a still-
born child. Autopsy reveals
that the fetus has 92 chro-
mosomes. Which of the fol-
lowing describes this condi-
, Pathophysiology Exam 1
Study online at https://quizlet.com/_jo40yn
tion?
A) Euploidy
B) Triploidy
C) Tetraploidy
D) Aneuploidy
5. If a person is a chromo- b
somal 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 dis-
eases.
D) be sterile as a result of the
genetic disease.
6. The most common cause of c
Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations.
7. Risk factors for Down syn- d
drome include:
A) fetal exposure to muta-
gens in the uterus.
B) increased paternal age.
C) family history of Down
syndrome.
, Pathophysiology Exam 1
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D) pregnancy in women over
age 35.
8. A 13-year-old girl has a kary- c
otype that reveals an absent
homologous X chromosome
with only a single X chromo-
some present. Her condition
is called:
A) Down syndrome.
B) Cri du chat syndrome.
C) Turner syndrome.
D) Edward syndrome
9. A child is diagnosed with c
cystic fibrosis. History re-
veals that the child's parents
are first cousins. Cystic fibro-
sis was most likely the result
of:
A) X inactivation.
B) genomic imprinting.
C) consanguinity.
D) obligate carriers.
10. Joey, age 9, is admitted d
to a pediatric unit with
Duchenne muscular dystro-
phy. He inherited this condi-
tion through a:
A) sex-linked dominant
trait.
, Pathophysiology Exam 1
Study online at https://quizlet.com/_jo40yn
B) sex-influenced trait.
C) sex-limited trait.
D) sex-linked recessive trait.
11. A 50-year-old male was re- d
cently diagnosed with Hunt-
ington disease. Transmis-
sion of this disease is associ-
ated with:
A) penetrance.
B) recurrence risk.
C) expressivity.
D) delayed age of onset.
12. People who have neurofi- b
bromatosis will show vary-
ing degrees of the disease;
this is because of the genetic
principle of:
A) penetrance.
B) expressivity.
C) dominance.
D) recessiveness.
13. Cystic fibrosis is caused by d
an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive
14. To express a polygenic trait: b
A) genes must interact with
Study online at https://quizlet.com/_jo40yn
1. An ordered photographic c
display of a set of chromo-
somes from a single cell is
a(n):
A) metaphase spread.
B) autosomal spread.
C) karyotype.
D) anaphase spread.
2. An error in which homolo- b
gous chromosomes fail to
separate during meiosis is
termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia.
3. 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.
4. A 20-year-old pregnant fe- c
male gives birth to a still-
born child. Autopsy reveals
that the fetus has 92 chro-
mosomes. Which of the fol-
lowing describes this condi-
, Pathophysiology Exam 1
Study online at https://quizlet.com/_jo40yn
tion?
A) Euploidy
B) Triploidy
C) Tetraploidy
D) Aneuploidy
5. If a person is a chromo- b
somal 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 dis-
eases.
D) be sterile as a result of the
genetic disease.
6. The most common cause of c
Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations.
7. Risk factors for Down syn- d
drome include:
A) fetal exposure to muta-
gens in the uterus.
B) increased paternal age.
C) family history of Down
syndrome.
, Pathophysiology Exam 1
Study online at https://quizlet.com/_jo40yn
D) pregnancy in women over
age 35.
8. A 13-year-old girl has a kary- c
otype that reveals an absent
homologous X chromosome
with only a single X chromo-
some present. Her condition
is called:
A) Down syndrome.
B) Cri du chat syndrome.
C) Turner syndrome.
D) Edward syndrome
9. A child is diagnosed with c
cystic fibrosis. History re-
veals that the child's parents
are first cousins. Cystic fibro-
sis was most likely the result
of:
A) X inactivation.
B) genomic imprinting.
C) consanguinity.
D) obligate carriers.
10. Joey, age 9, is admitted d
to a pediatric unit with
Duchenne muscular dystro-
phy. He inherited this condi-
tion through a:
A) sex-linked dominant
trait.
, Pathophysiology Exam 1
Study online at https://quizlet.com/_jo40yn
B) sex-influenced trait.
C) sex-limited trait.
D) sex-linked recessive trait.
11. A 50-year-old male was re- d
cently diagnosed with Hunt-
ington disease. Transmis-
sion of this disease is associ-
ated with:
A) penetrance.
B) recurrence risk.
C) expressivity.
D) delayed age of onset.
12. People who have neurofi- b
bromatosis will show vary-
ing degrees of the disease;
this is because of the genetic
principle of:
A) penetrance.
B) expressivity.
C) dominance.
D) recessiveness.
13. Cystic fibrosis is caused by d
an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive
14. To express a polygenic trait: b
A) genes must interact with
