ATI RN
Pediatric Genetic Questions
Question 1 of 5
The next diagnostic test for the patient in Question 11 is
Correct Answer: C
Rationale: Bitemporal hemianopsia and hyperprolactinemia indicate a pituitary lesion; head CT (C) or MRI confirms this. Rationale: Head imaging detects prolactinomas; abdominal/pelvic scans (A, B) and biopsy (D) are irrelevant to pituitary pathology.
Question 2 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 3 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 4 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 5 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.