ATI RN
Genetic Pediatric Questions
Question 1 of 5
All these facts are true about human genome EXCEPT
Correct Answer: C
Rationale: The human genome has ~3.1 billion base pairs (A), ~20,000–25,000 genes (B), and non-coding 'junk' DNA doesn’t directly form proteins (D). Only ~1.5–2% is coding DNA, not 60% (C is false). Rationale: Most DNA is non-coding, with regulatory or unknown roles.
Question 2 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 3 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 4 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 5 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.