ADVANCED PATHOPHYSIOLOGY UTMB 5355
EXAM 2026 ORGAN SYSTEM DYSFUNCTION
WORKBOOK SOLVED QUESTIONS
COMPILATION
◉ Mutagen.
Answer: chemical or physical agents in the environment that
increases frequency of mutations
◉ Radiation is an example of what:.
Answer: a mutagen
◉ Anticipation.
Answer: signs and symptoms of genetic condition tend to become
more severe and appear at an earlier age as the disorder is passed
from generation to generation
◉ Huntington's disease is an example of.
Answer: A disease affected by anticipation
◉ reduced penetrance.
,Answer: when a person inherits a dominant mutant gene but fails to
express it
◉ Penetrance.
Answer: The percentage of individuals with a specific genotype who
also express the expected phenotype
◉ 100% penetrance.
Answer: gene will always be expressed
◉ autosomal dominant means.
Answer: at least one parent is affected
◉ Clinical onset is later in life for.
Answer: autosomal dominant disorders
◉ Inheritance of Autosomal Dominant.
Answer: 50% chance
◉ autosomal recessive can be passed if.
Answer: two copies of an abnormal gene must be present in order
for the disease or trait to develop
,◉ autosomal recessive disorders example.
Answer: Tay-Sachs, Cystic fibrosis, sickle cell anemia,
phenylketonuria
◉ Autosomal Recessive Inheritance.
Answer: Skips generations,
25% of offsprings from 2 carrier parents affected.
◉ Clinical onset earlier in life for:.
Answer: autosomal recessive
◉ What if a disorder exists in a offspring but parents are not
carriers?.
Answer: Spontaneous mutation
◉ X-linked recessive disorders are.
Answer: Mutations on X chromosome
◉ Males are more often affected by X linked disorders because.
Answer: males only have one X chromosome
, ◉ females have 2 ___ chromosomes.
Answer: x
◉ Mutations would have to occur in __ X chromosomes to be
affected.
Answer: both
◉ Fathers cannot pass __ disorders to sons.
Answer: X-linked
◉ X-linked recessive inheritance include:.
Answer: No male to male transmission.
Sons have a 50 % chance of being affected.
Daughters have 50% of being unaffected
◉ Xlinked recessive disorder examples.
Answer: hemophilia A, MD
◉ 2 copies of disease allele are required for females.
Answer: to be affected by X linked recessive disorders
◉ affected male.
EXAM 2026 ORGAN SYSTEM DYSFUNCTION
WORKBOOK SOLVED QUESTIONS
COMPILATION
◉ Mutagen.
Answer: chemical or physical agents in the environment that
increases frequency of mutations
◉ Radiation is an example of what:.
Answer: a mutagen
◉ Anticipation.
Answer: signs and symptoms of genetic condition tend to become
more severe and appear at an earlier age as the disorder is passed
from generation to generation
◉ Huntington's disease is an example of.
Answer: A disease affected by anticipation
◉ reduced penetrance.
,Answer: when a person inherits a dominant mutant gene but fails to
express it
◉ Penetrance.
Answer: The percentage of individuals with a specific genotype who
also express the expected phenotype
◉ 100% penetrance.
Answer: gene will always be expressed
◉ autosomal dominant means.
Answer: at least one parent is affected
◉ Clinical onset is later in life for.
Answer: autosomal dominant disorders
◉ Inheritance of Autosomal Dominant.
Answer: 50% chance
◉ autosomal recessive can be passed if.
Answer: two copies of an abnormal gene must be present in order
for the disease or trait to develop
,◉ autosomal recessive disorders example.
Answer: Tay-Sachs, Cystic fibrosis, sickle cell anemia,
phenylketonuria
◉ Autosomal Recessive Inheritance.
Answer: Skips generations,
25% of offsprings from 2 carrier parents affected.
◉ Clinical onset earlier in life for:.
Answer: autosomal recessive
◉ What if a disorder exists in a offspring but parents are not
carriers?.
Answer: Spontaneous mutation
◉ X-linked recessive disorders are.
Answer: Mutations on X chromosome
◉ Males are more often affected by X linked disorders because.
Answer: males only have one X chromosome
, ◉ females have 2 ___ chromosomes.
Answer: x
◉ Mutations would have to occur in __ X chromosomes to be
affected.
Answer: both
◉ Fathers cannot pass __ disorders to sons.
Answer: X-linked
◉ X-linked recessive inheritance include:.
Answer: No male to male transmission.
Sons have a 50 % chance of being affected.
Daughters have 50% of being unaffected
◉ Xlinked recessive disorder examples.
Answer: hemophilia A, MD
◉ 2 copies of disease allele are required for females.
Answer: to be affected by X linked recessive disorders
◉ affected male.
