ATI RN
Pediatrics Genetics Questions
Question 1 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 2 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 3 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 4 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 5 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.