ATI RN
Common Pediatric Genetic Disorders Questions
Question 1 of 5
The most common lethal genetic disease in the United States is:
Correct Answer: B
Rationale: Cystic fibrosis is the most common lethal autosomal recessive disorder in the U.S., with significant morbidity and mortality.
Question 2 of 5
If a fragment of a chromosome breaks off and then reattaches to the original chromosome but in the reverse direction, the resulting chromosomal abnormality is called:
Correct Answer: B
Rationale: An inversion occurs when a chromosome segment is reversed in orientation after breaking and reattaching.
Question 3 of 5
Leber’s hereditary optic atrophy is caused by a mutation in:
Correct Answer: D
Rationale: Leber’s hereditary optic neuropathy (LHON) is caused by mitochondrial DNA mutations, inherited maternally.
Question 4 of 5
A proto-oncogene can become an oncogene when:
Correct Answer: B
Rationale: Proto-oncogenes become oncogenes via activation (e.g., translocation increasing expression, as in Burkitt’s lymphoma), not suppression.
Question 5 of 5
The childhood kidney cancer Wilms’ tumor is caused by:
Correct Answer: C
Rationale: Wilms’ tumor is associated with loss of the WT1 tumor suppressor gene on chromosome 11p13.