D115 MASTER SET ADVANCED
PATHOPHYSIOLOGY EXAM PREP QUESTIONS
AND ANSWERS 2026 STUDY GUIDE
◉ In which two conditions are chromosomal abnormalities the leading
known cause? Answer: Intellectual disability and fetal miscarriage.
Chromosome abnormalities are the leading known cause of intellectual
disability and fetal miscarriage.
◉ What are three examples of prenatal diagnostic studies? Answer:
Chorionic villus sampling (CVS), amniocentesis, and preimplantation
genetic testing (PGT) are examples of prenatal diagnostic studies and are
performed in vitro. CVS is a form of genetic testing that provides
genetic information found in utero and is usually performed between
weeks 11 and 14 of pregnancy. An amniocentesis is a form of genetic
testing that evaluates amniotic fluid and is usually performed during the
second trimester, between weeks 15 and 20 of pregnancy. PGT is
performed on the embryo prior to implantation.
◉ Which genetic disorder is characterized by the presence of a zygote
having one chromosome with a normal complement of genes and one
chromosome with a missing gene? Answer: Cri du chat syndrome
(translated as "cry of the cat") is caused by a DNA deletion. This term
describes the cry often heard from a baby affected by the syndrome. Cri
,du chat syndrome can present as a microcephalic, low birth-weight baby
with a piercing cry.
◉ How can an X-linked recessive disease skip generations? Answer:
The disease can be transmitted through female carriers.
Since females have two copies of the X chromosome, the mother may
provide an unaffected X to a daughter or son. Furthermore, a daughter
may not show signs of the disease because she has the other X (the only
X the father can give to a female) to cancel it out.
◉ Which type of risk is referred to as the ratio of the disease rate among
the entire population to the disease rate in an unexposed population?
Answer: Relative risk is a ratio of probability, not an actual occurrence
of disease.
◉ What are the empirical risks for most multifactorial diseases based
on? Answer: Many factors from lifestyle to genetics affect multifactorial
diseases. Observation and evaluation of each case individually provides
the most thorough and accurate assessment.
◉ What refers to the silenced gene of a gene pair. Answer: The
imprinted gene is the silent gene of a gene pair.
,◉ What is the primary reason that some older adults have impaired
inflammation and wound healing? Answer: The underlying chronic
illness exists.
A generalized inflammatory response seen in chronic illness depletes the
body's reserves to fight against illness.
◉ Which cells are the body's primary defense against parasite invasion?
Answer: Eosinophils are the body's primary defense against parasites.
◉ What Phagocytes bacteria? Answer: Macrophages work by eating or
phagocytosing bacteria.
◉ What is the first response to a foreign pathogen? Answer: Helper T
cells
◉ Which characteristic is the most important determinant of
immunogenicity when considering the antigen? Answer:
Immunogenicity is primarily based on the ability to recognize something
foreign.
◉ How are erythrocytes destroyed when mismatched blood is
administered, causing an ABO incompatibility? Answer: The
complement pathway is activated in response to blood incompatibility.
, ◉ What is the hypersensitivity reaction that causes atopic dermatitis?
Answer: An immediate (type I) hypersensitivity reaction causes atopic
dermatitis.
◉ Which four infections are considered fungal infections? Answer:
Infection with a fungus is called mycosis and includes dermatophytes
(e.g., tineas, which refers to several skin mycoses, including ringworm
and athlete's foot) and yeasts, which include candida and aspergillus.
◉ When is the earliest after sexual transmission of HIV that lab results
can detect infection? Answer: Lab testing can detect HIV RNA 4 to 10
days after sexual transmission, whereas HIV antibody testing may take
23 to 90 days to result in a positive test. Repeat testing may be needed to
rule out a false negative test due to testing too soon after exposure,
especially if a high likelihood of exposure is suspected.
◉ What is a characteristic of exotoxins? Answer: Exotoxins are released
during bacterial growth.
◉ Which dietary lifestyle choice has been associated with a decreased
risk for developing colon cancer? Answer: The results of decreased fat
consumption have been widely studied and have demonstrated a
decreased risk of developing colon cancer.
PATHOPHYSIOLOGY EXAM PREP QUESTIONS
AND ANSWERS 2026 STUDY GUIDE
◉ In which two conditions are chromosomal abnormalities the leading
known cause? Answer: Intellectual disability and fetal miscarriage.
Chromosome abnormalities are the leading known cause of intellectual
disability and fetal miscarriage.
◉ What are three examples of prenatal diagnostic studies? Answer:
Chorionic villus sampling (CVS), amniocentesis, and preimplantation
genetic testing (PGT) are examples of prenatal diagnostic studies and are
performed in vitro. CVS is a form of genetic testing that provides
genetic information found in utero and is usually performed between
weeks 11 and 14 of pregnancy. An amniocentesis is a form of genetic
testing that evaluates amniotic fluid and is usually performed during the
second trimester, between weeks 15 and 20 of pregnancy. PGT is
performed on the embryo prior to implantation.
◉ Which genetic disorder is characterized by the presence of a zygote
having one chromosome with a normal complement of genes and one
chromosome with a missing gene? Answer: Cri du chat syndrome
(translated as "cry of the cat") is caused by a DNA deletion. This term
describes the cry often heard from a baby affected by the syndrome. Cri
,du chat syndrome can present as a microcephalic, low birth-weight baby
with a piercing cry.
◉ How can an X-linked recessive disease skip generations? Answer:
The disease can be transmitted through female carriers.
Since females have two copies of the X chromosome, the mother may
provide an unaffected X to a daughter or son. Furthermore, a daughter
may not show signs of the disease because she has the other X (the only
X the father can give to a female) to cancel it out.
◉ Which type of risk is referred to as the ratio of the disease rate among
the entire population to the disease rate in an unexposed population?
Answer: Relative risk is a ratio of probability, not an actual occurrence
of disease.
◉ What are the empirical risks for most multifactorial diseases based
on? Answer: Many factors from lifestyle to genetics affect multifactorial
diseases. Observation and evaluation of each case individually provides
the most thorough and accurate assessment.
◉ What refers to the silenced gene of a gene pair. Answer: The
imprinted gene is the silent gene of a gene pair.
,◉ What is the primary reason that some older adults have impaired
inflammation and wound healing? Answer: The underlying chronic
illness exists.
A generalized inflammatory response seen in chronic illness depletes the
body's reserves to fight against illness.
◉ Which cells are the body's primary defense against parasite invasion?
Answer: Eosinophils are the body's primary defense against parasites.
◉ What Phagocytes bacteria? Answer: Macrophages work by eating or
phagocytosing bacteria.
◉ What is the first response to a foreign pathogen? Answer: Helper T
cells
◉ Which characteristic is the most important determinant of
immunogenicity when considering the antigen? Answer:
Immunogenicity is primarily based on the ability to recognize something
foreign.
◉ How are erythrocytes destroyed when mismatched blood is
administered, causing an ABO incompatibility? Answer: The
complement pathway is activated in response to blood incompatibility.
, ◉ What is the hypersensitivity reaction that causes atopic dermatitis?
Answer: An immediate (type I) hypersensitivity reaction causes atopic
dermatitis.
◉ Which four infections are considered fungal infections? Answer:
Infection with a fungus is called mycosis and includes dermatophytes
(e.g., tineas, which refers to several skin mycoses, including ringworm
and athlete's foot) and yeasts, which include candida and aspergillus.
◉ When is the earliest after sexual transmission of HIV that lab results
can detect infection? Answer: Lab testing can detect HIV RNA 4 to 10
days after sexual transmission, whereas HIV antibody testing may take
23 to 90 days to result in a positive test. Repeat testing may be needed to
rule out a false negative test due to testing too soon after exposure,
especially if a high likelihood of exposure is suspected.
◉ What is a characteristic of exotoxins? Answer: Exotoxins are released
during bacterial growth.
◉ Which dietary lifestyle choice has been associated with a decreased
risk for developing colon cancer? Answer: The results of decreased fat
consumption have been widely studied and have demonstrated a
decreased risk of developing colon cancer.
