ADVANCED PATHOPHYSIOLOGY FINAL EXAM
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HIGH YIELD STUDY GUIDE FINAL EXAM
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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. - SOLUTION=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. - SOLUTION=d
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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. - SOLUTION=d
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. - SOLUTION=b
Cystic fibrosis is caused by an _____ gene.
A) X-linked dominant
B) X-linked recessive
C) autosomal dominant
D) autosomal recessive - SOLUTION=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. - SOLUTION=b
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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. - SOLUTION=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%
C) 25%
D) Impossible to determine - SOLUTION=a
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 - SOLUTION=d
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?
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A) Translocation
B) Inversion
C) Nondisjunction
D) Duplication at fragile sites - SOLUTION=d
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. - SOLUTION=c
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 - SOLUTION=d
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