ATI RN
Genetic Pediatric Questions
Question 1 of 5
Which of the following is an example of monosomy?
Correct Answer: D
Rationale: Monosomy is one chromosome missing; 45,X (Turner syndrome) is a monosomy.
Question 2 of 5
Which of the following is not a recognized complication of cystic fibrosis?
Correct Answer: A
Rationale: CF complications include infertility, diabetes, and cirrhosis, but not esophageal cancer.
Question 3 of 5
The risk for miscarriage associated with amniocentesis is approximately
Correct Answer: C
Rationale: Amniocentesis carries a miscarriage risk of ~0.5-1% (1 in 100-200).
Question 4 of 5
A 35-year-old man who works at a facility processing highly radioactive substances accidentally receives a high, whole-body dose of ionizing radiation estimated to be 1500 rads (15 gray). He dies 1 week later. At autopsy, histologic examination of the skin shows scattered, individual epidermal cells with shrunken markedly eosinophilic cytoplasm and pyknotic, fragmented nuclei. These morphologic changes most likely indicate which of the following processes?
Correct Answer: A
Rationale: High radiation induces apoptosis (programmed cell death), seen as shrunken, eosinophilic cells with fragmented nuclei.
Question 5 of 5
Which one of the following causes a frame-shift mutation?
Correct Answer: C
Rationale: Deletion (if not in multiples of 3) shifts the reading frame; substitutions (A-E) do not.