ATI RN
Genetic Disorders in Pediatrics Questions
Question 1 of 5
46 XX male syndrome is a rare condition, described by De la Chapelle et al. in 1964 where the individual has phenotypically male characteristics. It occurs in one out of every 20,000-25,000 newborn males. This condition could be related to:
Correct Answer: C
Rationale: SRY gene (C) causes 46, XX males. Rationale: SRY translocation from Y to X or autosome in XX individuals triggers male development despite no Y chromosome. Turner is 45, X; Rb is unrelated (retinoblastoma).
Question 2 of 5
Pair homologous chromosomes in metaphase I, how many double strand DNA in it?
Correct Answer: D
Rationale: A homologous pair in metaphase I has 2 chromosomes, each with 2 chromatids (4 double-stranded DNA molecules total). (4) is correct. Rationale: Post-S phase, each chromosome duplicates; a pair (e.g., chromosome 1 from mom and dad) has 4 double helices before separation.
Question 3 of 5
Which of the following deletion of the p arm causes abnormality?
Correct Answer: D
Rationale: Deletion of 16p (D) causes abnormalities (e.g., 16p11.2 deletion syndrome). Rationale: 13p, 14p, 15p are mostly heterochromatic (fewer genes), often benign when deleted; 16p has critical genes, leading to developmental issues.
Question 4 of 5
The most common cause of trisomy 21:
Correct Answer: B
Rationale: Maternal meiosis I nondisjunction (B) is the most common cause of Down syndrome. Rationale: 90% of trisomy 21 cases are maternal, mostly MI errors (homologs fail to separate), linked to maternal age.
Question 5 of 5
Partial mole results from:
Correct Answer: C
Rationale: 2 maternal, 1 paternal sets (C) form a partial mole. Rationale: Triploidy (69, XXX or XXY) from dispermy or diploid egg retains some fetal tissue.