ATI RN
Pediatrics Genetics Questions
Question 1 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 2 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 3 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.
Question 4 of 5
Of the following, the test /study that is required to be done periodically in persons with Down syndrome (DS) is
Correct Answer: D
Rationale: Thyroid function (D) is monitored in DS due to high hypothyroidism risk. Rationale: Congenital heart defects (C) are screened early, not periodically; thyroid issues emerge later.
Question 5 of 5
You are evaluating a small for gestational age neonate; you find the following features: hypertonia, prominent occiput, short sternum, and clenching of fists.
Correct Answer: C
Rationale: Edward syndrome (trisomy 18, C) features hypertonia, clenched fists, and prominent occiput. Rationale: Down (A) has hypotonia; Patau (B) has polydactyly.