ATI RN
Pediatric Genetic Questions
Question 1 of 5
The proportion of babies that have an abnormality identifiable at birth is:
Correct Answer: B
Rationale: Approximately 2-3% (1 in 33-50) of newborns have a major congenital anomaly.
Question 2 of 5
Which of the following disorders does not show X-linked inheritance?
Correct Answer: B
Rationale: Tay-Sachs is autosomal recessive; others are X-linked.
Question 3 of 5
Repeat core sequences consisting of 2,3, or 4 base pairs are known as what?
Correct Answer: B
Rationale: Microsatellites are short tandem repeats of 2-4 base pairs.
Question 4 of 5
Which of the following diagnostic techniques is of no value for the diagnosis of neural tube defects?
Correct Answer: B
Rationale: CVS tests chromosomes, not neural tube defects (NTDs); others detect NTDs via AFP or imaging.
Question 5 of 5
The following diseases constitute the Chromosome Instability Syndromes - Ataxia telangiectasia - Fanconi anemia - Bloom syndrome - Xeroderma Pigmentosum: The following statements on the syndromes are correct EXCEPT:
Correct Answer: A
Rationale: A is incorrect; radiation is avoided due to DNA repair defects increasing sensitivity.