ATI RN
Pediatric Genetic Disorders Questions
Question 1 of 5
Vulvovaginitis in prepubertal girls is characterized by all of the following EXCEPT
Correct Answer: A
Rationale: Prepubertal vulvovaginitis features discharge (B), erythema (C), and pruritus (D), but exacerbation at puberty (A) is incorrect as it’s more common pre-puberty due to low estrogen. Rationale: Masturbation (E) may contribute but isn’t a defining feature; puberty increases estrogen, reducing incidence.
Question 2 of 5
The following are examples of autosomal dominant disorders EXCEPT
Correct Answer: D
Rationale: NF2 (A), Huntington (B), Marfan (C), are AD; Friedreich ataxia (D) is AR (GAA repeat on chromosome 9). Rationale: AD disorders need one allele; FRDA requires two.
Question 3 of 5
Of the following, the MOST common type of X-linked inheritance is
Correct Answer: B
Rationale: Color blindness (B) is the most common XLR disorder (1 in 12 males). Rationale: Hemophilia (D) and fragile X (E) are less frequent; Rett (A) is XLD.
Question 4 of 5
The MOST common genetic defect of Prader-Willi syndrome (PWS) is
Correct Answer: B
Rationale: PWS is most commonly due to paternal 15q11-13 deletion (B, ~70%). Rationale: Maternal deletion (A) causes Angelman; paternal UPD (C) is less common (~25%).
Question 5 of 5
A 24-year-old pregnant lady in 2nd trimester comes to your clinic worried about her exposure to CXR done for suspicion of pneumonia last week; she is highly concerned about possibility of congenital anomalies. Of the following, the BEST advice to her is that
Correct Answer: D
Rationale: A single chest X-ray (low dose, <0.1 mGy) is negligible. Rationale: Fetal risk is significant only >50 mGy; 2nd trimester is less sensitive than 1st.