Which of the following is not a propey of autosomal dominant disorders?
Correct Answer: Complete penetrance
Description: Incomplete penetrance and not Complete penetrance is feature of autosomal dominant disorder. Autosomal dominant disorder: Heterozygosity expression 50% progeny are affected Veical inheritance (at least 1 affected member is seen in each generation) Affect both female and male equally Associated with involvement of structural protein Either they have loss of function mutation or gain of function mutation. Incomplete penetrance Variable expressivity (some affected individual have mild, some patient have moderate or severe disease).
Category:
Pathology
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