ATI RN
Pediatric Genetic Questions
Question 1 of 5
CML is caused by:
Correct Answer: C
Rationale: Reciprocal t(9;22) (C) causes CML (Philadelphia chromosome). Rationale: BCR-ABL1 fusion drives myeloid proliferation; Robertsonian involves acrocentrics (e.g., 14;21), not 9;22.
Question 2 of 5
Pathogenic mutations in TBX5 cause Holt-Oram syndrome which includes cardiovascular (atrial septal defect, hypoplastic left heart syndrome), chest (Absent pectoralis major muscle) and skeletal anomalies (vertebral anomalies, triphalangeal thumb and carpal bone anomalies). The TBX5 phenotypic effect is related to which concept:
Correct Answer: C
Rationale: Pleiotropy (C) describes one gene affecting multiple traits. TBX5 mutations cause diverse effects (heart, chest, skeleton), fitting this concept. Rationale: Unlike reduced penetrance (variable expression), sex-limited (gender-specific), or multifactorial (many factors), pleiotropy explains TBX5’s broad impact.
Question 3 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 4 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 5 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.