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*******b******* - samomcos
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08-31-2009, 08:24 PM
A man with a history of hyperextensible joints and aortic insufficiency presents for a genetic screening. He is discovered to have a homozygous defect in the gene that encodes the glycoprotein fibrillin. What are the chances that his son will have the same disease?
A. 0% B. 20% C. 50% D. 80% E. 100%
08-31-2009, 08:27 PM
Marfan Syndrome, autosomal dominant, has variable expression, no incomplete penetrance, therefore E.
08-31-2009, 08:39 PM
why not 50%, AD we know only 1 parent having the disease!!!!!!!!!
08-31-2009, 08:39 PM
E is right...since he's homozygous, his son will definitely get a defective gene and manifest..
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