PRACTICE EXAM & STUDY GUIDE
250 Verified Questions & Answers with Detailed Rationales |
Advanced Pathophysiology for the Advanced Practice Nurse | Latest
2026 Update
Questions 1–250
UNIT 1: CELLULAR INJURY, ADAPTATION, AND GENETICS (Questions 1–
40)
1. Which type of genetic disease affects males more frequently than
females?
A) Autosomal recessive
B) Autosomal dominant
C) Sex-linked recessive
D) Sex-linked dominant
Answer C: Sex-linked recessive
,Rationale: Since males have only one X chromosome (XY) and one Y, if the
affected X chromosome carries the illness, it will be expressed. Females
have two X chromosomes and would need both copies to be affected.
2. In which two conditions are chromosomal abnormalities the
leading known cause?
A) Respiratory disorders and mental illness
B) Intellectual disability and fetal miscarriage
C) Cardiovascular disease and respiratory disorders
D) Mental illness and cardiovascular disease
Answer B: Intellectual disability and fetal miscarriage
Rationale: Chromosomal abnormalities are the leading known cause of
both intellectual disability and fetal miscarriage.
3. What are three examples of prenatal diagnostic studies?
A) Drug-sensitivity testing, microscopy of cervical mucosa, and blood
typing
B) Chorionic villus sampling (CVS), amniocentesis, and preimplantation
genetic testing (PGT)
C) Ultrasound, MRI, and CT scan
D) Maternal serum screening, fetal heart rate monitoring, and biophysical
profile
,Answer B: Chorionic villus sampling (CVS), amniocentesis, and
preimplantation genetic testing (PGT)
Rationale: CVS, amniocentesis, and PGT are examples of prenatal
diagnostic studies performed in vitro. CVS is performed between weeks
11-14 of pregnancy, amniocentesis between weeks 15-20, and PGT is
performed on the embryo prior to implantation.
4. Which genetic disorder is characterized by a zygote having one
chromosome with a normal complement of genes and one
chromosome with a missing gene?
A) Klinefelter syndrome
B) Down syndrome
C) Cri-du-chat syndrome
D) Turner syndrome
Answer C: Cri-du-chat syndrome
Rationale: Cri-du-chat syndrome is caused by a deletion on chromosome
5, resulting in one chromosome with a normal complement of genes and
one with a missing gene. Turner syndrome (45, XO) involves a missing sex
chromosome; Down syndrome is trisomy 21; Klinefelter syndrome is XXY.
5. What is the difference between apoptosis and necrosis?
A) Apoptosis is unregulated cell death; necrosis is programmed cell death
, B) Apoptosis is programmed cell death; necrosis is unregulated cell death
due to injury
C) Apoptosis is caused by ischemia; necrosis is caused by genetic factors
D) Both are forms of programmed cell death
Answer B: Apoptosis is programmed cell death; necrosis is
unregulated cell death due to injury
Rationale: Apoptosis is a genetically programmed, orderly process of cell
death that eliminates damaged or unnecessary cells without triggering
inflammation. Necrosis is unregulated cell death caused by injury,
ischemia, or toxins, leading to inflammation.
6. Which term describes an increase in the size of cells leading to an
increase in organ size?
A) Hyperplasia
B) Hypertrophy
C) Atrophy
D) Metaplasia
Answer B: Hypertrophy
Rationale: Hypertrophy is an increase in cell size, resulting in an enlarged
organ. Hyperplasia is an increase in the number of cells. Atrophy is a
decrease in cell size, and metaplasia is the replacement of one
differentiated cell type with another.