ATI RN
Pediatric Genetic Questions
Question 1 of 5
Initial therapy for the girl described in Question 4 should include all of the following EXCEPT
Correct Answer: D
Rationale: Nonspecific vaginitis treatment focuses on hygiene (A), sitz baths (B), mild soaps (C), Metronidazole (D). is unnecessary. Rationale: Metronidazole treats bacterial vaginosis (e.g., Gardnerella), not nonspecific irritation; hygiene measures address the cause.
Question 2 of 5
All the following are true in autosomal dominant disorder EXCEPT
Correct Answer: D
Rationale: Autosomal dominant traits affect autosomes (A), require one mutant allele (B), have 50% inheritance (C), and allow male-to-male transmission (D). Male:female ratio is ~1:1, not 2:1 Rationale: Sex bias suggests X-linked, not AD.
Question 3 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 4 of 5
A family consulted you; they have a long history of illnesses in their progeny and ancestors, they have 3 kids; 2 boys and one girl, the latter is complaining from episodic vomiting, seizures, and recurrent attacks of limb weaknesses. The older adolescent boy is wheel chaired due to severe stroke and the young boy is doing well. The maternal grandmother has diabetes and she is visiting the ophthalmologist for treatment of squint; the mother is on treatment for heart failure and having some hearing problem. Of the following, the MOST helpful study to confirm diagnosis is
Correct Answer: B
Rationale: Maternal inheritance pattern (mother, grandmother, variable symptoms) suggests mitochondrial disease (B), e.g., MELAS. Rationale: Stroke, seizures, hearing loss, and diabetes fit mitochondrial DNA defects.
Question 5 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.