ATI RN
Genetic Pediatric Questions
Question 1 of 5
Clinical symptoms in Marfan Syndrome (MFS) mostly involve three systems: cardiac, ophthalmologic, and skeletal. The treatment that is slowing the aortic dilatation and may prevent aortic dissection is
Correct Answer: A
Rationale: Losartan (A), an ARB, reduces aortic root dilatation in MFS. Rationale: It targets TGF-β signaling (FBN1 defect); beta-blockers like atenolol (B) are older options.
Question 2 of 5
Teratogenic agents are chemical, physical, or biologic agents that have the potential to damage embryonic tissue and result in congenital malformations. The rate of birth defects caused by teratogens is about
Correct Answer: B
Rationale: Teratogens cause ~6% of birth defects (B). Rationale: Most defects (~65%) are unknown etiology; genetic (~20%) and teratogens (~6%) are smaller fractions.
Question 3 of 5
The MOST useful way for confirmation of genetic defect in velocardiofacial (DiGeorge) syndrome is
Correct Answer: B
Rationale: FISH (B) confirms 22q11.2 deletion in DiGeorge syndrome. Rationale: Karyotype (A) misses microdeletions; FISH targets the specific locus.
Question 4 of 5
All the following are recognized associations in infant with Down syndrome EXCEPT
Correct Answer: D
Rationale: DS associations include polycythemia (A), leukemoid reaction (B), jaundice (C), and leukemia (E); cataracts (D) are less common neonatally. Rationale: Eye issues emerge later.
Question 5 of 5
A mentally retarded 15-year-old boy is found to have macroorchidism and large, prominent ears. He most likely has
Correct Answer: D
Rationale: Fragile X syndrome is characterized by intellectual disability, macroorchidism (enlarged testicles), and large ears, especially in males due to its X-linked inheritance. Cerebral giantism (Sotos syndrome) involves overgrowth but not typically macroorchidism. Acromegaly is a pituitary disorder seen in adults. Hypothyroidism doesn’t cause these features, and trisomy 21 (Down syndrome) presents with distinct facial features but not macroorchidism.