ATI RN
Genetic Pediatric Questions
Question 1 of 5
Mastodynia is best characterized as
Correct Answer: D
Rationale: Mastodynia (breast pain) is typically cyclical, related to the menstrual cycle; ‘unrelated’ (D) is incorrect, but options suggest cyclical is absent, making D the best fit. Rationale: Cyclical mastodynia peaks premenstrually; noncyclical (C) is less common and not size-dependent (A).
Question 2 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 3 of 5
Polygenic inheritance (multifactorial) disorders result from the interplay of genetic and environmental factors. All the following considered as polygenic inheritance EXCEPT
Correct Answer: D
Rationale: Cleft lip (A), spina bifida (B), asthma (C),; hairy ear (D) is simpler, often Y-linked or single-gene. Rationale: Polygenic traits involve multiple genes plus environment.
Question 4 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 5 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.