ATI RN
Genetic Disorders in Pediatrics Questions
Question 1 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.
Question 2 of 5
Maternal exposure to DES places the female offspring at increased risk for
Correct Answer: B
Rationale: DES exposure in utero increases risk of clear cell adenocarcinoma of the vagina (B). Rationale: DES, a synthetic estrogen, causes vaginal epithelial changes; ovarian cancer (A) and other conditions (C, D) are not directly linked.
Question 3 of 5
Neurofibromatosis Type 1 regarded as one of the most common AD disorders but many affected individuals have features so mild that they are never diagnosed. Of the following, the MOST likely cause of such phenomena is
Correct Answer: B
Rationale: Variable expressivity (B) explains mild NF1 phenotypes (e.g., few café-au-lait spots vs. tumors). Rationale: Penetrance (A) is near 100% in NF1; UPD (C) is unrelated.
Question 4 of 5
A 2-year-old girl with history of delayed speech, lonely play, and special hand movement (hand washing posture), the parents are healthy relative couple. The genetic cause of this disorder is MOST likely due to
Correct Answer: C
Rationale: Rett syndrome (hand-washing, regression) is often a de novo mutation (C) in MECP2 (XLD). Rationale: Healthy parents and consanguinity reduce carrier likelihood (A, B); not chromosomal (D).
Question 5 of 5
Fragile X syndrome (FRAX) is the most common cause of inherited intellectual disability. The individual who manifest the disease may have the number of trinucleotide repeat of CGG in the region Xq 27 of
Correct Answer: D
Rationale: Fragile X full mutation is >200 CGG repeat. Rationale: Normal is <45 (A), premutation 55–200 (B, C, D); >200 causes methylation and intellectual disability.