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Pediatrics · Genetics: Duchenne inheritance
Sample itemA woman has a brother and a son with Duchenne muscular dystrophy. What is the risk for her next male child?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. 50 percent affected
Duchenne muscular dystrophy is X-linked recessive, and a carrier mother transmits the mutated X to half of her sons, who are affected, and half of her daughters, who become carriers. Her serum CK may be mildly raised. New mutations explain about one third of cases.
Option by option
A. 50 percent affected (correct)
Correct. A carrier mother has a 50 percent risk for each son.
B. 25 percent affected
Twenty-five percent is the risk for each child in an autosomal recessive cross.
C. No risk
She is an obligate carrier.
D. 100 percent affected
Not all sons are affected.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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