NURS 6233 Midterm Advanced Genetics,
Genomics, And Pathophysiology (Latest
2026/2027 Update)
1. A couple both have achondroplasia (autosomal dominant). What is the
probability their child will have normal stature?
A) 0%
B) 25%
C) 50%
D) 75%
Rationale: Both parents are heterozygous (Aa). Punnett square: AA (lethal in
homozygous dominant form for achondroplasia – but some exam assume viable?
Actually homozygous dominant is lethal, so live births: 2/3 affected, 1/3 normal.
However classic answer for both heterozygotes: 25% normal, 50% affected, 25%
homozygous lethal – so 25% normal.)
2. Cystic fibrosis is caused by mutations in the CFTR gene. This is an example of:
A) Autosomal recessive disorder
B) Autosomal dominant disorder
C) X-linked recessive disorder
D) Mitochondrial disorder
Rationale: CF requires two mutated copies (one from each parent) for disease
expression.
3. A male with hemophilia A (X-linked recessive) has a child with a female who is
not a carrier. What percentage of their sons will have hemophilia?
A) 0%
B) 25%
C) 50%
D) 0% (sons inherit father’s Y, not X; daughters get father’s X and become
carriers)
,Rationale: Father gives Y to sons → no X-linked gene from father. Mother gives
normal X → sons normal.
4. Which of the following is an example of a trinucleotide repeat disorder?
A) Sickle cell disease
B) Huntington’s disease
C) Down syndrome
D) Turner syndrome
Rationale: Huntington’s results from CAG repeats in HTT gene; autosomal
dominant.
5. A woman is a carrier for Duchenne muscular dystrophy (X-linked recessive).
Her partner is unaffected. What is the chance their daughter will be affected?
A) 0%
B) 50%
C) 0% (daughters get father’s normal X)
D) 100%
Rationale: Daughters inherit father’s normal X (unaffected) and mother’s X
(carrier) → not affected, may be carriers.
6. In autosomal dominant inheritance with complete penetrance, an affected
individual usually has:
A) At least one affected parent
B) Two unaffected parents
C) Consanguineous parents
D) No family history
Rationale: Affected parent passes the mutation; unaffected parents do not (unless
new mutation).
7. Which disorder shows maternal inheritance pattern?
A) Huntington’s
B) Leber hereditary optic neuropathy (LHON)
,C) Hemophilia
D) Marfan syndrome
Rationale: LHON is caused by mitochondrial DNA mutations, transmitted only
through mother.
8. A couple has three children with autosomal recessive disorder. Both parents are
healthy. Their genotypes are most likely:
A) Both homozygous dominant
B) Both heterozygous
C) One homozygous dominant, one heterozygous
D) Both homozygous recessive
Rationale: Carriers (heterozygotes) are asymptomatic but can have affected
children.
9. What is the recurrence risk for an autosomal recessive disorder after one
affected child?
A) 0%
B) 25% (for each subsequent pregnancy)
C) 50%
D) 75%
Rationale: Each pregnancy has 25% chance if both parents are carriers.
10. A man has an X-linked dominant disorder. His daughters will:
A) All be affected
B) 50% be affected
C) None affected
D) All be carriers only
Rationale: X-linked dominant: father passes his X to all daughters → all affected.
11. Which of the following is NOT a characteristic of mitochondrial disorders?
A) Paternal inheritance
, B) Heteroplasmy
C) High energy-demand tissue involvement (muscle, brain)
D) Variable expressivity
Rationale: Mitochondrial disorders are maternally inherited, not paternal.
12. A newborn has hypotonia, poor feeding, and a high-arched palate. Genetic
testing shows deletion of 15q11.2-q13 paternal allele. This is:
A) Angelman syndrome
B) Prader-Willi syndrome
C) Beckwith-Wiedemann
D) DiGeorge syndrome
Rationale: Paternal deletion of 15q11-q13 → Prader-Willi; maternal deletion →
Angelman.
13. In a pedigree, a disorder appears in every generation, affects both sexes
equally, and male-to-male transmission occurs. The pattern is:
A) X-linked recessive
B) Autosomal dominant
C) Autosomal recessive
D) X-linked dominant
Rationale: Male-to-male rules out X-linked; every generation suggests dominant.
14. Consanguinity increases the risk for which type of disorder?
A) Autosomal recessive
B) Autosomal dominant
C) X-linked dominant
D) Mitochondrial
Rationale: Related parents more likely to carry same recessive mutation.
15. A patient with phenylketonuria (PKU) must avoid dietary phenylalanine. PKU
is caused by deficiency of:
Genomics, And Pathophysiology (Latest
2026/2027 Update)
1. A couple both have achondroplasia (autosomal dominant). What is the
probability their child will have normal stature?
A) 0%
B) 25%
C) 50%
D) 75%
Rationale: Both parents are heterozygous (Aa). Punnett square: AA (lethal in
homozygous dominant form for achondroplasia – but some exam assume viable?
Actually homozygous dominant is lethal, so live births: 2/3 affected, 1/3 normal.
However classic answer for both heterozygotes: 25% normal, 50% affected, 25%
homozygous lethal – so 25% normal.)
2. Cystic fibrosis is caused by mutations in the CFTR gene. This is an example of:
A) Autosomal recessive disorder
B) Autosomal dominant disorder
C) X-linked recessive disorder
D) Mitochondrial disorder
Rationale: CF requires two mutated copies (one from each parent) for disease
expression.
3. A male with hemophilia A (X-linked recessive) has a child with a female who is
not a carrier. What percentage of their sons will have hemophilia?
A) 0%
B) 25%
C) 50%
D) 0% (sons inherit father’s Y, not X; daughters get father’s X and become
carriers)
,Rationale: Father gives Y to sons → no X-linked gene from father. Mother gives
normal X → sons normal.
4. Which of the following is an example of a trinucleotide repeat disorder?
A) Sickle cell disease
B) Huntington’s disease
C) Down syndrome
D) Turner syndrome
Rationale: Huntington’s results from CAG repeats in HTT gene; autosomal
dominant.
5. A woman is a carrier for Duchenne muscular dystrophy (X-linked recessive).
Her partner is unaffected. What is the chance their daughter will be affected?
A) 0%
B) 50%
C) 0% (daughters get father’s normal X)
D) 100%
Rationale: Daughters inherit father’s normal X (unaffected) and mother’s X
(carrier) → not affected, may be carriers.
6. In autosomal dominant inheritance with complete penetrance, an affected
individual usually has:
A) At least one affected parent
B) Two unaffected parents
C) Consanguineous parents
D) No family history
Rationale: Affected parent passes the mutation; unaffected parents do not (unless
new mutation).
7. Which disorder shows maternal inheritance pattern?
A) Huntington’s
B) Leber hereditary optic neuropathy (LHON)
,C) Hemophilia
D) Marfan syndrome
Rationale: LHON is caused by mitochondrial DNA mutations, transmitted only
through mother.
8. A couple has three children with autosomal recessive disorder. Both parents are
healthy. Their genotypes are most likely:
A) Both homozygous dominant
B) Both heterozygous
C) One homozygous dominant, one heterozygous
D) Both homozygous recessive
Rationale: Carriers (heterozygotes) are asymptomatic but can have affected
children.
9. What is the recurrence risk for an autosomal recessive disorder after one
affected child?
A) 0%
B) 25% (for each subsequent pregnancy)
C) 50%
D) 75%
Rationale: Each pregnancy has 25% chance if both parents are carriers.
10. A man has an X-linked dominant disorder. His daughters will:
A) All be affected
B) 50% be affected
C) None affected
D) All be carriers only
Rationale: X-linked dominant: father passes his X to all daughters → all affected.
11. Which of the following is NOT a characteristic of mitochondrial disorders?
A) Paternal inheritance
, B) Heteroplasmy
C) High energy-demand tissue involvement (muscle, brain)
D) Variable expressivity
Rationale: Mitochondrial disorders are maternally inherited, not paternal.
12. A newborn has hypotonia, poor feeding, and a high-arched palate. Genetic
testing shows deletion of 15q11.2-q13 paternal allele. This is:
A) Angelman syndrome
B) Prader-Willi syndrome
C) Beckwith-Wiedemann
D) DiGeorge syndrome
Rationale: Paternal deletion of 15q11-q13 → Prader-Willi; maternal deletion →
Angelman.
13. In a pedigree, a disorder appears in every generation, affects both sexes
equally, and male-to-male transmission occurs. The pattern is:
A) X-linked recessive
B) Autosomal dominant
C) Autosomal recessive
D) X-linked dominant
Rationale: Male-to-male rules out X-linked; every generation suggests dominant.
14. Consanguinity increases the risk for which type of disorder?
A) Autosomal recessive
B) Autosomal dominant
C) X-linked dominant
D) Mitochondrial
Rationale: Related parents more likely to carry same recessive mutation.
15. A patient with phenylketonuria (PKU) must avoid dietary phenylalanine. PKU
is caused by deficiency of:
