ATI RN
Common Pediatric Genetic Disorders Questions
Question 1 of 5
The treatment of choice for labial adhesions is
Correct Answer: D
Rationale: Topical estrogens (D) are the standard treatment for labial adhesions. Rationale: Estrogen separates fused labia by promoting epithelial growth; antibiotics (A, B) treat infection, not adhesions; oral estrogens (C) are less targeted.
Question 2 of 5
A 10-month-old baby with achondroplasia; developing recurrent apneas. Of the following, the MOST likely cause is
Correct Answer: B
Rationale: Achondroplasia causes foramen magnum stenosis (B), leading to brainstem compression and apnea. Rationale: Skeletal dysplasia narrows this passage; dental issues (A) or hydrocephalus (C) are less direct causes.
Question 3 of 5
Which of the following is an X-linked dominant inheritant disease?
Correct Answer: D
Rationale: Rett syndrome is XLD (MECP2 gene). Rationale: DMD (A) is XLR; Gaucher (B) is AR; Angelman (C) is imprinting; cat eye (D) is chromosomal.
Question 4 of 5
Disorders caused by expansion of trinucleotide repeats include all the following EXCEPT
Correct Answer: B
Rationale: Ataxia-telangiectasia (B) is due to ATM mutations, not trinucleotide repeats. Rationale: Fragile X (A), Huntington (C), myotonic dystrophy (D), and Friedreich (E) involve CGG, CAG, CTG, GAA repeats.
Question 5 of 5
Consanguinity may increase the chance that a child will be born with a rare autosomal recessive (AR) condition. The risk of first cousins producing a child with an AR disorder is
Correct Answer: A
Rationale: First cousins share 1/8 genes; AR risk is 1/4 if both carriers, total ~1/16 (A). Rationale: General population risk is lower; consanguinity amplifies rare allele sharing.