PATHOPHYSIOLOGY EXAM 1
WITH CORRRECT ANSWERS
2025 GRADED A+
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 answers ) c
An error in which homologous chromosomes fail to separate during meiosis
is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia. ( correct answers ) b
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 answers ) a
GRADED A+
,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 answers ) c
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 answers ) b
The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations. ( correct answers ) c
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 answers ) d
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:
GRADED A+
,A) Down syndrome.
B) Cri du chat syndrome.
C) Turner syndrome.
D) Edward syndrome ( correct answers ) c
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 answers ) c
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 answers ) d
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 answers ) d
People who have neurofibromatosis will show varying degrees of the disease;
this is because of the genetic principle of:
A) penetrance.
GRADED A+
, B) expressivity.
C) dominance.
D) recessiveness. ( correct answers ) b
Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive ( correct answers ) d
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. ( correct answers ) b
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. ( correct answers ) b
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%
GRADED A+
WITH CORRRECT ANSWERS
2025 GRADED A+
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 answers ) c
An error in which homologous chromosomes fail to separate during meiosis
is termed:
A) aneuploidy.
B) nondisjunction.
C) polyploidy.
D) anaplasia. ( correct answers ) b
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 answers ) a
GRADED A+
,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 answers ) c
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 answers ) b
The most common cause of Down syndrome is:
A) paternal nondisjunction.
B) maternal translocations.
C) maternal nondisjunction.
D) paternal translocations. ( correct answers ) c
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 answers ) d
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:
GRADED A+
,A) Down syndrome.
B) Cri du chat syndrome.
C) Turner syndrome.
D) Edward syndrome ( correct answers ) c
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 answers ) c
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 answers ) d
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 answers ) d
People who have neurofibromatosis will show varying degrees of the disease;
this is because of the genetic principle of:
A) penetrance.
GRADED A+
, B) expressivity.
C) dominance.
D) recessiveness. ( correct answers ) b
Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive ( correct answers ) d
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. ( correct answers ) b
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. ( correct answers ) b
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%
GRADED A+
