ATI RN
Common Pediatric Genetic Disorders Questions
Question 1 of 5
Matching: Vulvovaginitis - Umbilicated
Correct Answer: B
Rationale: Umbilicated lesions (central depression) are characteristic of Molluscum contagiosum (B). Rationale: Pinworms (A) cause pruritus without nodules; lice (C) have nits; Shigella (D) and Streptococcus (E) cause discharge, not umbilicated lesions.
Question 2 of 5
Dysgerminomas of the ovaries are usually associated with
Correct Answer: B
Rationale: Dysgerminomas, germ cell tumors, are linked to X-Y gonadal dysgenesis (B). Rationale: XY females (e.g., Swyer syndrome) have dysgenetic gonads prone to malignancy; Turner (C) and Noonan (A) involve XO or other defects, less associated.
Question 3 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 4 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 5 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.