ATI RN
Genetic Disorders in Pediatrics Questions
Question 1 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 2 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.
Question 3 of 5
Normal phenotypically will be:
Correct Answer: C
Rationale: 45, XX, t(13;13) (C) is balanced, phenotypically normal. Rationale: Balanced translocation carriers (45 chromosomes) have normal gene dosage; others (XXY, X, +13) show syndromes.
Question 4 of 5
Suppose there’s an X-linked recessive disease, if the mother has the disease, while the father doesn’t, what’s the chance that they’ll have an affected female?
Correct Answer: D
Rationale: Zero (D) chance for an affected female. Rationale: Mother (XX, affected, X^a X^a) and father (XY, unaffected, X^+ Y) produce sons (X^a Y, all affected) and daughters (X^a X^+, carriers). X-linked recessive requires two mutant alleles in females, impossible here.
Question 5 of 5
Matching: Vulvovaginitis - Nits on hair shaft
Correct Answer: C
Rationale: Nits on hair shafts indicate Pediculosis pubis (C, pubic lice). Rationale: Pinworms (A) are intestinal; Molluscum (B) causes skin lesions; Shigella (D) and Streptococcus (E) are bacterial, not associated with nits.