ATI RN
Pediatrics Genetics Questions
Question 1 of 5
Successful treatment of nonspecific vulvovaginitis includes all of the following EXCEPT
Correct Answer: D
Rationale: Treatment includes loose clothing (B), sitz baths (C), and mild soap (D). Oral tetracycline is not indicated. Rationale: Topical estrogen (A) may help in severe cases; tetracycline is for bacterial infections, not nonspecific vulvovaginitis.
Question 2 of 5
Parents to a 2-year-old boy with achondroplasia, father is 45 years and mother is 35 years old and no one of them manifest the disease. Of the following, the MOST likely explanation is
Correct Answer: C
Rationale: Achondroplasia (FGFR3 mutation) is AD, but unaffected parents suggest a new mutation (C). Rationale: 80% of cases are de novo; incomplete penetrance (A) or expressivity (B) implies a parental carrier, unlikely here; maternal age (D) isn’t key.
Question 3 of 5
All the following are the rules of X-Linked recessive Inheritance EXCEPT
Correct Answer: C
Rationale: XLR traits affect males more (A), 50% sons of carriers (B), no father-to-son (D), and carriers may show mild traits (E). Affected males pass to all daughters (carriers), not half (C is false). Rationale: X^a Y fathers give X^a to all daughters.
Question 4 of 5
All the following are features of Prader-Willi syndrome EXCEPT
Correct Answer: B
Rationale: PWS features postnatal hypotonia (not prenatal, B), obesity (C), small extremities (D), and growth delay (A). Rationale: Prenatal hypotonia is more typical of other conditions.
Question 5 of 5
The growing promising technique that is still in the research stage and being piloted in high-risk pregnancies for prenatal diagnosis is
Correct Answer: D
Rationale: Cell-free fetal DNA (D) is a promising, non-invasive prenatal test. Rationale: It detects aneuploidy from maternal blood, piloted in high-risk cases; others (A-C) are established.