ATI RN
Pediatric Genetic Questions
Question 1 of 5
One of the following is an example of an x-linked recessive disorder
Correct Answer: D
Rationale: Adrenoleukodystrophy (D) is XLR; CF (A), CAH (B), and Gaucher (C) are AR; sickle cell (E) is AR. Rationale: ALD affects X chromosome (ABCD1 gene).
Question 2 of 5
Of the following, the first trimester non-invasive screening test with good detection rate for aneuploidy is
Correct Answer: A
Rationale: Nuchal translucency (A) at 11–14 weeks screens for aneuploidy non-invasively. Rationale: Amnio (B) and CVS (C) are invasive; quad screen (D) is 2nd trimester.
Question 3 of 5
A medical student is asking about the meaning of balanced translocation in parents who have baby with Down syndrome. Of the following, the TRUE statement is
Correct Answer: A
Rationale: Balanced translocation (e.g., t(14;21)) means normal gene content, 45 chromosomes (A). Rationale: Carrier parents are phenotypically normal; unbalanced offspring get trisomy 21.
Question 4 of 5
All the following are characteristic features of Turner syndrome EXCEPT
Correct Answer: C
Rationale: Turner syndrome (45,X) includes normal IQ (A), low-set ears (B), neck webbing (D), and hand puffiness (E); triangular face (C) is not typical. Rationale: Face is often broad.
Question 5 of 5
Strictly speaking, maternal inheritance is best defined as
Correct Answer: D
Rationale: Maternal inheritance refers to traits passed via mitochondrial DNA, which is exclusively inherited from the mother since sperm contribute negligible mitochondria. X-linked recessive involves the X chromosome, not mitochondria, and sex-specific affliction isn’t accurate for mitochondrial inheritance.