ATI RN
Pediatric Genetic Questions
Question 1 of 5
Baby with macrocephaly and severe intrauterine growth retardation:
Correct Answer: B
Rationale: Digynic (B, maternal triploidy) fits. Rationale: 2 maternal + 1 paternal sets (69, XXX/XXY) cause small fetus, macrocephaly; diandric has large placenta.
Question 2 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 3 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 4 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 5 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.