ATI RN
Pediatric Genetic Disorders Questions
Question 1 of 5
The treatment of choice for the patient in Questions 11 and 12 is
Correct Answer: B
Rationale: Bromocriptine (B), a dopamine agonist, is first-line for prolactinomas, shrinking tumors and normalizing prolactin. Rationale: Surgery (A) is for large/non-responsive tumors; Ondansetron (C) treats nausea, phenothiazine (D) increases prolactin, and antidepressants (E) are unrelated.
Question 2 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 3 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 4 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.
Question 5 of 5
Children with Down syndrome are most likely diagnosed clinically in the neonatal period. All the following are characteristic facial features EXCEPT
Correct Answer: B
Rationale: Down syndrome features include macroglossia (A), hypoplastic midface (C), flat nasal bridge (D), and down-slanting fissures (E); flattened occiput (B) is not typical. Rationale: Occiput is often normal or prominent.