ATI RN
Genetic Pediatric Questions
Question 1 of 5
Which phase of the cycle is most likely to be interrupted for smaller abnormalities detection?
Correct Answer: B
Rationale: Prometaphase (B) allows detection of smaller abnormalities. Rationale: Chromosomes are less condensed than metaphase, showing finer details with high-resolution banding, unlike S (replication) or G (non-dividing) phases.
Question 2 of 5
Tetraploidy results from:
Correct Answer: B
Rationale: Endomitosis post-fertilization (B) causes tetraploidy (4n=92). Rationale: Zygote duplicates chromosomes without division; dispermy yields triploidy, not 4n.
Question 3 of 5
Possibility of combinations for diploid cell with 10 chromosomes?
Correct Answer: D
Rationale: 2^n where n=5 (haploid from 2n=10) gives 32 (D). Rationale: Independent assortment of 5 pairs yields 2^5 = 32 gamete combinations.
Question 4 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 <2). Brain MRI shows a thin corpus callosum but no other abnormalities. You suspect pyruvate dehydrogenase deficiency. Which of the following is the most likely mode of inheritance in this infant?
Correct Answer: C
Rationale: Pyruvate dehydrogenase deficiency (PDH) is often autosomal recessive (C), though X-linked forms exist. Rationale: E1 subunit mutations (PDHA1, X-linked) are common, but autosomal recessive (other subunits) fits sporadic cases in females without male bias; symptoms match metabolic defect.
Question 5 of 5
Matching: Vulvovaginitis - Associated
Correct Answer: A
Rationale: ‘Associated’ is vague, but Enterobiasis (A, pinworms) is commonly linked to vulvovaginitis in children via perineal migration. Rationale: Molluscum (B) and lice (C) are skin-specific; Shigella (D) and Streptococcus (E) cause bacterial vaginitis, but pinworms are a frequent pediatric association.