7/29/25, 12:04 PM Pathophysiology Exam
PATHOPHYSIOLOGY PRACTICE EXAM \LATEST VERSION
2025 \ COMPLETE QUESTIONS AND CORRECT DETAILED
ANSWERS \VERIFIED ANSWERS \ALREADY GRADED A+
If a person is a b
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.
The most common cause of c
Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations.
Risk factors for Down d
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.
A 13-year-old girl has a c
karyotype that reveals an
absent homologous X
chromosome with only a
single X
chromosome present. Her
condition is called:
A) Down syndrome.
1/47
,7/29/25, 12:15 PM Pathophysiology Exam 1
B) Cri du chat syndrome.
C) Turner syndrome.
D) Edward syndrome
A child is diagnosed with c
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.
Joey, age 9, is admitted to d
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.
A 50-year-old male was d
recently
diagnosed with
Huntington disease.
Transmission of this disease
is associated with:
A) penetrance.
B) recurrence risk.
C) expressivity.
D) delayed age of onset.
2/47
,7/29/25, 12:15 PM Pathophysiology Exam 1
People who have b
neurofibromatosis will show
varying 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 d
____________________gene.
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 b
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.
3/47
, 7/29/25, 12:15 PM Pathophysiology Exam 1
A couple has three a
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 12-year-old male is d
diagnosed with Klinefelter
syndrome. His karyotype
would reveal which of the
following?
A) XY
B) XX
C) XYY
D) XXY
A 5-year-old male presents d
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
4/47
PATHOPHYSIOLOGY PRACTICE EXAM \LATEST VERSION
2025 \ COMPLETE QUESTIONS AND CORRECT DETAILED
ANSWERS \VERIFIED ANSWERS \ALREADY GRADED A+
If a person is a b
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.
The most common cause of c
Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations.
Risk factors for Down d
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.
A 13-year-old girl has a c
karyotype that reveals an
absent homologous X
chromosome with only a
single X
chromosome present. Her
condition is called:
A) Down syndrome.
1/47
,7/29/25, 12:15 PM Pathophysiology Exam 1
B) Cri du chat syndrome.
C) Turner syndrome.
D) Edward syndrome
A child is diagnosed with c
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.
Joey, age 9, is admitted to d
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.
A 50-year-old male was d
recently
diagnosed with
Huntington disease.
Transmission of this disease
is associated with:
A) penetrance.
B) recurrence risk.
C) expressivity.
D) delayed age of onset.
2/47
,7/29/25, 12:15 PM Pathophysiology Exam 1
People who have b
neurofibromatosis will show
varying 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 d
____________________gene.
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 b
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.
3/47
, 7/29/25, 12:15 PM Pathophysiology Exam 1
A couple has three a
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 12-year-old male is d
diagnosed with Klinefelter
syndrome. His karyotype
would reveal which of the
following?
A) XY
B) XX
C) XYY
D) XXY
A 5-year-old male presents d
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
4/47
