PATHOPHYSIOLOGY EXAM 1. STUDY QUESTIONS
AND ANSWERS FOR REVISION 2024/2025
UPDATE.
1. An ordered photographic display of a set of chromosomes
from a single cell is a(n):
A) metaphaspread.
B) autosomal spread.
C) karyotype.
D) anaphase spread.: c
2. An error in which homologous chromosomes fail to separate
during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia.: b
3. 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.: a
4. 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: c
5. 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.: b
6. The most common cause of Down syndrome is:
A) paternal
nondisjunction.
B) maternal
translocations.
C) maternal
nondisjunction.
D) paternal
translocations.: c
7. Risk factors for Down
syndrome include: A) fetal
exposure to mutagens in the
uterus.
B) increased paternal age.
C) family history of Down syndrome.
, PATHOPHYSIOLOGY EXAM 1. STUDY QUESTIONS
AND ANSWERS FOR REVISION 2024/2025
UPDATE.
D)pregnancy in women over age 35.: d
8. 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: c
9. 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.: c
10. 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.: d
, 1 1. 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.: d
12. 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.: b
13. Cystic fibrosis is caused by an gene.
A) X-Iinked dominant
B) X-Iinked recessive
C) autosomal dominant
D) autosomal recessive: d
14. 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.: b
AND ANSWERS FOR REVISION 2024/2025
UPDATE.
1. An ordered photographic display of a set of chromosomes
from a single cell is a(n):
A) metaphaspread.
B) autosomal spread.
C) karyotype.
D) anaphase spread.: c
2. An error in which homologous chromosomes fail to separate
during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia.: b
3. 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.: a
4. 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: c
5. 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.: b
6. The most common cause of Down syndrome is:
A) paternal
nondisjunction.
B) maternal
translocations.
C) maternal
nondisjunction.
D) paternal
translocations.: c
7. Risk factors for Down
syndrome include: A) fetal
exposure to mutagens in the
uterus.
B) increased paternal age.
C) family history of Down syndrome.
, PATHOPHYSIOLOGY EXAM 1. STUDY QUESTIONS
AND ANSWERS FOR REVISION 2024/2025
UPDATE.
D)pregnancy in women over age 35.: d
8. 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: c
9. 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.: c
10. 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.: d
, 1 1. 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.: d
12. 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.: b
13. Cystic fibrosis is caused by an gene.
A) X-Iinked dominant
B) X-Iinked recessive
C) autosomal dominant
D) autosomal recessive: d
14. 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.: b
