ATI RN
Pediatric Genetic Questions
Question 1 of 5
You are asked to consult about a 2-month-old girl with hypotonia, seizures, and an elevated plasma lactate (8 mM/L, normal deficiency. Which of the following is the most likely mode of inheritance in this infant?
Correct Answer: C
Rationale: Same as Q10; autosomal recessive (C) for PDH deficiency. Rationale: Recessive inheritance fits sporadic female cases; mitochondrial (maternal) or X-linked (male bias) are less likely without family history or sex skew.
Question 2 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 3 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 4 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 5 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.