Comprehensive Pathophysiology Exam with Answers and
Rationales – Essential Knowledge for Nursing Practice.
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. ---Correct---Ans.c
karyotype: A karyotype is an ordered photographic display of a set of chromosomes from a
single cell. It's used to identify genetic disorders.
Rationale: Karyotyping is a technique used to visualize and analyze the chromosomes in a cell.
It's essential for diagnosing genetic disorders
2.An error in which homologous chromosomes fail to separate during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia. ---Correct---Ans.b
nondisjunction: Nondisjunction is an error in which homologous chromosomes fail to separate
during meiosis, leading to aneuploidy.
Rationale: Nondisjunction occurs when there's a failure in the separation of chromosomes
during meiosis, resulting in abnormal numbers of chromosomes in the offspring.
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. ---Correct---Ans.a
, an aneuploid cell: An aneuploid cell has an abnormal number of chromosomes, which can lead
to genetic disorders.
Rationale: Aneuploidy occurs when a cell has more or fewer chromosomes than the typical
number, leading to genetic disorders.
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 ---Correct---Ans.c
Tetraploidy: Tetraploidy occurs when a cell has four sets of chromosomes, which can be lethal
in humans.
Rationale: Tetraploidy is a type of polyploidy where a cell has four sets of chromosomes. This
condition is often lethal in humans.
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. ---Correct---Ans.b
have a mild form of the genetic disease: Chromosomal mosaicism can lead to a mixture of
normal and abnormal cells, resulting in a milder form of the disease.
Rationale: Chromosomal mosaicism occurs when there's a mixture of normal and abnormal
cells in an individual. This can lead to a milder form of the genetic disease.
6.The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
,C) maternal nondisjunction.
D) paternal translocations. ---Correct---Ans.c
maternal nondisjunction: Maternal nondisjunction is the most common cause of Down
syndrome.
Rationale: Down syndrome is often caused by nondisjunction during meiosis, and maternal
nondisjunction is more common than paternal nondisjunction.
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.
D) pregnancy in women over age 35. ---Correct---Ans.d
pregnancy in women over age 35: Advanced maternal age is a significant risk factor for Down
syndrome.
Rationale: The risk of Down syndrome increases with maternal age, particularly after the age of
35.
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 ---Correct---Ans.c
Turner syndrome: Turner syndrome is characterized by an absent homologous X chromosome,
resulting in a 45,X karyotype.
Rationale: Turner syndrome is a genetic disorder that affects females, where one of the X
chromosomes is missing or partially deleted.
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. ---Correct---Ans.c
consanguinity: Consanguinity increases the risk of autosomal recessive disorders, such as cystic
fibrosis.
Rationale: Consanguinity refers to the practice of marrying within the family, which increases
the risk of autosomal recessive disorders.
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. ---Correct---Ans.d
sex-linked recessive trait: Duchenne muscular dystrophy is an X-linked recessive disorder, which
is more common in males.
Rationale: Duchenne muscular dystrophy is caused by a mutation in the dystrophin gene on the
X chromosome, making it an X-linked recessive disorder.
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. ---Correct---Ans.d
delayed age of onset: Huntington disease is characterized by a delayed age of onset, typically
in mid-life.
Rationale: Huntington disease is a neurodegenerative disorder that typically manifests in mid-
life, with symptoms worsening over time
12.People who have neurofibromatosis will show varying degrees of the disease; this is because
of the genetic principle of:
Rationales – Essential Knowledge for Nursing Practice.
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. ---Correct---Ans.c
karyotype: A karyotype is an ordered photographic display of a set of chromosomes from a
single cell. It's used to identify genetic disorders.
Rationale: Karyotyping is a technique used to visualize and analyze the chromosomes in a cell.
It's essential for diagnosing genetic disorders
2.An error in which homologous chromosomes fail to separate during meiosis is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia. ---Correct---Ans.b
nondisjunction: Nondisjunction is an error in which homologous chromosomes fail to separate
during meiosis, leading to aneuploidy.
Rationale: Nondisjunction occurs when there's a failure in the separation of chromosomes
during meiosis, resulting in abnormal numbers of chromosomes in the offspring.
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. ---Correct---Ans.a
, an aneuploid cell: An aneuploid cell has an abnormal number of chromosomes, which can lead
to genetic disorders.
Rationale: Aneuploidy occurs when a cell has more or fewer chromosomes than the typical
number, leading to genetic disorders.
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 ---Correct---Ans.c
Tetraploidy: Tetraploidy occurs when a cell has four sets of chromosomes, which can be lethal
in humans.
Rationale: Tetraploidy is a type of polyploidy where a cell has four sets of chromosomes. This
condition is often lethal in humans.
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. ---Correct---Ans.b
have a mild form of the genetic disease: Chromosomal mosaicism can lead to a mixture of
normal and abnormal cells, resulting in a milder form of the disease.
Rationale: Chromosomal mosaicism occurs when there's a mixture of normal and abnormal
cells in an individual. This can lead to a milder form of the genetic disease.
6.The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
,C) maternal nondisjunction.
D) paternal translocations. ---Correct---Ans.c
maternal nondisjunction: Maternal nondisjunction is the most common cause of Down
syndrome.
Rationale: Down syndrome is often caused by nondisjunction during meiosis, and maternal
nondisjunction is more common than paternal nondisjunction.
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.
D) pregnancy in women over age 35. ---Correct---Ans.d
pregnancy in women over age 35: Advanced maternal age is a significant risk factor for Down
syndrome.
Rationale: The risk of Down syndrome increases with maternal age, particularly after the age of
35.
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 ---Correct---Ans.c
Turner syndrome: Turner syndrome is characterized by an absent homologous X chromosome,
resulting in a 45,X karyotype.
Rationale: Turner syndrome is a genetic disorder that affects females, where one of the X
chromosomes is missing or partially deleted.
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. ---Correct---Ans.c
consanguinity: Consanguinity increases the risk of autosomal recessive disorders, such as cystic
fibrosis.
Rationale: Consanguinity refers to the practice of marrying within the family, which increases
the risk of autosomal recessive disorders.
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. ---Correct---Ans.d
sex-linked recessive trait: Duchenne muscular dystrophy is an X-linked recessive disorder, which
is more common in males.
Rationale: Duchenne muscular dystrophy is caused by a mutation in the dystrophin gene on the
X chromosome, making it an X-linked recessive disorder.
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. ---Correct---Ans.d
delayed age of onset: Huntington disease is characterized by a delayed age of onset, typically
in mid-life.
Rationale: Huntington disease is a neurodegenerative disorder that typically manifests in mid-
life, with symptoms worsening over time
12.People who have neurofibromatosis will show varying degrees of the disease; this is because
of the genetic principle of:
