ATI RN
Pediatrics Genetics Questions
Question 1 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 2 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 3 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.
Question 4 of 5
All are true about homeobox genes EXCEPT
Correct Answer: D
Rationale: Homeobox genes regulate development by determining tissue fate, acting as transcription factors, and controlling other genes. Mutations can cause aniridia (e.g., PAX6). However, tissues don’t typically revert to an undifferentiated state after homeobox gene action; their role is to direct differentiation, not reverse it.
Question 5 of 5
Down syndrome due to translocation of a third chromosome 21 is best described by all of the following EXCEPT
Correct Answer: C
Rationale: Translocation Down syndrome (4% of cases) involves chromosome 21 attaching to 13, 14, 15, or 21. Carriers are phenotypically normal, but recurrence risk is high (10-15% for mothers, lower for fathers). Phenotypes are not milder than trisomy 21.