Pathophysiology Exam 1
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Pathophysiology Exam 1 Questions & Very Accurate Answers
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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.: 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.
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B) increased paternal age.
C) family history of Down syndrome.
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
11. 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-linked dominant
B) X-linked recessive
C) autosomal dominant
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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
15. 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.: b
16. A couple has three offspring: one child with an autosomal dominant disease
trait and two who are normal. The father is affected by the autosomal dominant
disease, but the mother does not have the disease gene. What is the recurrence risk
of this autosomal dominant disease for their next child? A) 50% B) 33%
C) 25%
D) Impossible to determine: a
17. A 12-year-old male is diagnosed with Klinefelter syndrome. His karyotype would
reveal which of the following?
A) XY
B) XX
C) XYY
D) XXY: d
18. A 5-year-old male presents with mental retardation and is diagnosed with
Fragile X syndrome. Which of the following is most likely to cause this syndrome?
A) Translocation
B) Inversion
C) Nondisjunction
D) Duplication at fragile sites: d
19. The outward manifestation of a disease, often influenced by both genes and the
environment, is called the disease: A) genotype.
B) allele.
C) phenotype.
D) dominance.: c
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20. Which of the following genetic diseases manifests with progressive dementia in
middle to later adulthood?
A) Duchenne muscular dystrophy
B) Cystic fibrosis
C) Achondroplasia
D) Huntington disease: d
21. Which of the following types of genetic disorders is the most common cause
of miscarriage? A) Autosomal dominant
B) Autosomal recessive
C) X-linked recessive
D) Chromosomal: d
22. Which of the following is an accurate characteristic of an autosomal recessive
pedigree?
A) On average, 50% of the children will have the autosomal recessive disease if one
parent has the disease.
B) Males are affected more than females.
C) On average, 25% of the children are affected by the autosomal recessive disease
if both parents are carriers.
D) There is a decreased risk of disease with consanguinity.: c
23. Which of the following is an accurate characterization of an X-linked recessive
pedigree?
A) Disease is seen more often in males than females.
B) A pattern of skipped generations is rare.
C) Males are gene carriers.
D) Mothers usually transmit the disease to their daughters.: a
24. The process by which RNA directs the synthesis of protein is called: A)
termination.
B) transcription.
C) promotion.
D) translation.: d
25. A 15-year-old female is diagnosed with Prader-Willi syndrome. This condition is
an example of: A) gene imprinting.
B) an autosomal recessive trait.
C) an autosomal dominant trait.
D) a sex-linked trait.: a
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Pathophysiology Exam 1 Questions & Very Accurate Answers
2024 /2025( A+ Graded 100% Verified)Brand New!!!!
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.: 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.
, Pathophysiology Exam 1
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B) increased paternal age.
C) family history of Down syndrome.
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
11. 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-linked dominant
B) X-linked recessive
C) autosomal dominant
, Pathophysiology Exam 1
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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
15. 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.: b
16. A couple has three offspring: one child with an autosomal dominant disease
trait and two who are normal. The father is affected by the autosomal dominant
disease, but the mother does not have the disease gene. What is the recurrence risk
of this autosomal dominant disease for their next child? A) 50% B) 33%
C) 25%
D) Impossible to determine: a
17. A 12-year-old male is diagnosed with Klinefelter syndrome. His karyotype would
reveal which of the following?
A) XY
B) XX
C) XYY
D) XXY: d
18. A 5-year-old male presents with mental retardation and is diagnosed with
Fragile X syndrome. Which of the following is most likely to cause this syndrome?
A) Translocation
B) Inversion
C) Nondisjunction
D) Duplication at fragile sites: d
19. The outward manifestation of a disease, often influenced by both genes and the
environment, is called the disease: A) genotype.
B) allele.
C) phenotype.
D) dominance.: c
, Pathophysiology Exam 1
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20. Which of the following genetic diseases manifests with progressive dementia in
middle to later adulthood?
A) Duchenne muscular dystrophy
B) Cystic fibrosis
C) Achondroplasia
D) Huntington disease: d
21. Which of the following types of genetic disorders is the most common cause
of miscarriage? A) Autosomal dominant
B) Autosomal recessive
C) X-linked recessive
D) Chromosomal: d
22. Which of the following is an accurate characteristic of an autosomal recessive
pedigree?
A) On average, 50% of the children will have the autosomal recessive disease if one
parent has the disease.
B) Males are affected more than females.
C) On average, 25% of the children are affected by the autosomal recessive disease
if both parents are carriers.
D) There is a decreased risk of disease with consanguinity.: c
23. Which of the following is an accurate characterization of an X-linked recessive
pedigree?
A) Disease is seen more often in males than females.
B) A pattern of skipped generations is rare.
C) Males are gene carriers.
D) Mothers usually transmit the disease to their daughters.: a
24. The process by which RNA directs the synthesis of protein is called: A)
termination.
B) transcription.
C) promotion.
D) translation.: d
25. A 15-year-old female is diagnosed with Prader-Willi syndrome. This condition is
an example of: A) gene imprinting.
B) an autosomal recessive trait.
C) an autosomal dominant trait.
D) a sex-linked trait.: a
