NR 283 Pathophysiology Exam 1- Exam Questions & Verified Answers
An ordered photographic display of a set of chromosomes c
from a single cell is a(n):
A) metaphase spread.
B) autosomal spread.
C) karyotype.
D) anaphase spread.
An error in which homologous chromosomes fail to b
separate during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia.
A somatic cell that does not contain a multiple of 23 a
chromosomes is called:
A) an aneuploid cell.
B) a euploid cell.
C) a polyploidy cell.
D) a haploid cell.
A 20-year-old pregnant female gives birth to a stillborn c
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 chromosomal mosaic, the person may: b
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.
The most common cause of Down syndrome is: c
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations.
Risk factors for Down syndrome include: d
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 karyotype that reveals an absent c
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
A child is diagnosed with cystic fibrosis. History reveals c
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.
Stuvia | Academic Year (2026-2027)
, NR 283 Pathophysiology Exam 1- Exam Questions & Verified Answers
Joey, age 9, is admitted to a pediatric unit with Duchenne d
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 recently diagnosed with d
Huntington disease. Transmission of this disease is
associated with:
A) penetrance.
B) recurrence risk.
C) expressivity.
D) delayed age of onset.
People who have neurofibromatosis will show varying b
degrees of the disease; this is because of the genetic
principle of:
A) penetrance.
B) expressivity.
C) dominance.
D) recessiveness.
Cystic fibrosis is caused by an _____ gene. d
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive
To express a polygenic trait: b
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.
The gradual increase in height among the human b
population over the past 100 years is an example of:
A) polygenic trait.
B) multifactorial trait.
C) crossing over.
D) recombination.
A couple has three offspring: one child with an autosomal a
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 12-year-old male is diagnosed with Klinefelter syndrome. d
His karyotype would reveal which of the following?
A) XY
B) XX
C) XYY
D) XXY
A 5-year-old male presents with mental retardation and is d
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
Stuvia | Academic Year (2026-2027)
, NR 283 Pathophysiology Exam 1- Exam Questions & Verified Answers
The outward manifestation of a disease, often influenced c
by both genes and the environment, is called the disease:
A) genotype.
B) allele.
C) phenotype.
D) dominance.
Which of the following genetic diseases manifests with d
progressive dementia in middle to later adulthood?
A) Duchenne muscular dystrophy
B) Cystic fibrosis
C) Achondroplasia
D) Huntington disease
Which of the following types of genetic disorders is the d
most common cause of miscarriage?
A) Autosomal dominant
B) Autosomal recessive
C) X-linked recessive
D) Chromosomal
Which of the following is an accurate characteristic of an c
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.
Which of the following is an accurate characterization of an a
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.
The process by which RNA directs the synthesis of protein d
is called:
A) termination.
B) transcription.
C) promotion.
D) translation.
A 15-year-old female is diagnosed with Prader-Willi a
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.
Adaptive cellular mechanisms function to: b
A) treat disease.
B) protect cells from injury.
C) prevent cellular aging.
D) speed up cellular death.
Cellular atrophy involves: b
A) an increase in cell size.
B) a decrease in cell size.
C) an increase in the number of cells.
D) a decrease in the number of cells.
Stuvia | Academic Year (2026-2027)
An ordered photographic display of a set of chromosomes c
from a single cell is a(n):
A) metaphase spread.
B) autosomal spread.
C) karyotype.
D) anaphase spread.
An error in which homologous chromosomes fail to b
separate during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia.
A somatic cell that does not contain a multiple of 23 a
chromosomes is called:
A) an aneuploid cell.
B) a euploid cell.
C) a polyploidy cell.
D) a haploid cell.
A 20-year-old pregnant female gives birth to a stillborn c
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 chromosomal mosaic, the person may: b
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.
The most common cause of Down syndrome is: c
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations.
Risk factors for Down syndrome include: d
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 karyotype that reveals an absent c
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
A child is diagnosed with cystic fibrosis. History reveals c
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.
Stuvia | Academic Year (2026-2027)
, NR 283 Pathophysiology Exam 1- Exam Questions & Verified Answers
Joey, age 9, is admitted to a pediatric unit with Duchenne d
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 recently diagnosed with d
Huntington disease. Transmission of this disease is
associated with:
A) penetrance.
B) recurrence risk.
C) expressivity.
D) delayed age of onset.
People who have neurofibromatosis will show varying b
degrees of the disease; this is because of the genetic
principle of:
A) penetrance.
B) expressivity.
C) dominance.
D) recessiveness.
Cystic fibrosis is caused by an _____ gene. d
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive
To express a polygenic trait: b
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.
The gradual increase in height among the human b
population over the past 100 years is an example of:
A) polygenic trait.
B) multifactorial trait.
C) crossing over.
D) recombination.
A couple has three offspring: one child with an autosomal a
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 12-year-old male is diagnosed with Klinefelter syndrome. d
His karyotype would reveal which of the following?
A) XY
B) XX
C) XYY
D) XXY
A 5-year-old male presents with mental retardation and is d
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
Stuvia | Academic Year (2026-2027)
, NR 283 Pathophysiology Exam 1- Exam Questions & Verified Answers
The outward manifestation of a disease, often influenced c
by both genes and the environment, is called the disease:
A) genotype.
B) allele.
C) phenotype.
D) dominance.
Which of the following genetic diseases manifests with d
progressive dementia in middle to later adulthood?
A) Duchenne muscular dystrophy
B) Cystic fibrosis
C) Achondroplasia
D) Huntington disease
Which of the following types of genetic disorders is the d
most common cause of miscarriage?
A) Autosomal dominant
B) Autosomal recessive
C) X-linked recessive
D) Chromosomal
Which of the following is an accurate characteristic of an c
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.
Which of the following is an accurate characterization of an a
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.
The process by which RNA directs the synthesis of protein d
is called:
A) termination.
B) transcription.
C) promotion.
D) translation.
A 15-year-old female is diagnosed with Prader-Willi a
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.
Adaptive cellular mechanisms function to: b
A) treat disease.
B) protect cells from injury.
C) prevent cellular aging.
D) speed up cellular death.
Cellular atrophy involves: b
A) an increase in cell size.
B) a decrease in cell size.
C) an increase in the number of cells.
D) a decrease in the number of cells.
Stuvia | Academic Year (2026-2027)
