ATI RN
Pediatrics Genetics Questions
Question 1 of 5
Cancer cells probably arise frequently but are detected and eliminated by our immune system:
Correct Answer: A
Rationale: True. Immune surveillance eliminates many nascent cancer cells (immunoediting hypothesis).
Question 2 of 5
Which of the following would result in Angelman syndrome?
Correct Answer: A
Rationale: Angelman syndrome results from loss of maternal 15q11-13 (e.g., maternal UPD or paternal deletion).
Question 3 of 5
Which of the following conditions is caused by a trinucleotide (triplet) repeat expansion?
Correct Answer: C
Rationale: Huntington disease is caused by CAG repeat expansion in the HTT gene.
Question 4 of 5
Which of the following karyotypes is not compatible with survival to birth?
Correct Answer: D
Rationale: 45,Y (only Y chromosome) is not viable; 47,XY,+13 (Patau), +18 (Edwards), +21 (Down) can survive to birth.
Question 5 of 5
Which of the following conditions shows anticipation in paternal transmission?
Correct Answer: D
Rationale: Fragile X syndrome shows anticipation (worsening with generations) via triplet repeat expansion, often more pronounced in paternal transmission.