SCI 225
PATHOPHYSIOLOGY
Week 12: Genetic & Congenital
Disorders
CONTENT REVIEW EXAM
©Nightingale 2024/2025
,1. Which of the following is a common hallmark of autosomal
recessive disorders?
a) Vertical inheritance
b) Reduced penetrance
c) Equal expression in males and females
d) Affected individuals usually have unaffected parents
Correct Answer: d
Rationale: Autosomal recessive disorders typically have
affected individuals who inherit the mutant allele from both
parents, often leaving them unaffected.
2. Which chromosomal abnormality is associated with Down
syndrome?
a) Monosome 21
b) Trisomy 21
c) Translocation of chromosome 18
d) Deletion of chromosome 15
Correct Answer: b
©Nightingale 2024/2025
, Rationale: Down syndrome is primarily caused by the
presence of an extra copy of chromosome 21, known as trisomy
21.
3. Mitochondrial disorders are unique because they are inherited
from:
a) Both parents
b) The father only
c) The mother only
d) Autosomal chromosomes
Correct Answer: c
Rationale: Mitochondrial DNA is maternally inherited, so
mitochondrial disorders are passed down exclusively from the
mother.
4. In sickle cell disease, the genetic mutation occurs in which of
the following genes?
a) HBA1
b) HBB
c) HBA2
d) HBG1
Correct Answer: b
©Nightingale 2024/2025
PATHOPHYSIOLOGY
Week 12: Genetic & Congenital
Disorders
CONTENT REVIEW EXAM
©Nightingale 2024/2025
,1. Which of the following is a common hallmark of autosomal
recessive disorders?
a) Vertical inheritance
b) Reduced penetrance
c) Equal expression in males and females
d) Affected individuals usually have unaffected parents
Correct Answer: d
Rationale: Autosomal recessive disorders typically have
affected individuals who inherit the mutant allele from both
parents, often leaving them unaffected.
2. Which chromosomal abnormality is associated with Down
syndrome?
a) Monosome 21
b) Trisomy 21
c) Translocation of chromosome 18
d) Deletion of chromosome 15
Correct Answer: b
©Nightingale 2024/2025
, Rationale: Down syndrome is primarily caused by the
presence of an extra copy of chromosome 21, known as trisomy
21.
3. Mitochondrial disorders are unique because they are inherited
from:
a) Both parents
b) The father only
c) The mother only
d) Autosomal chromosomes
Correct Answer: c
Rationale: Mitochondrial DNA is maternally inherited, so
mitochondrial disorders are passed down exclusively from the
mother.
4. In sickle cell disease, the genetic mutation occurs in which of
the following genes?
a) HBA1
b) HBB
c) HBA2
d) HBG1
Correct Answer: b
©Nightingale 2024/2025
