Help - okt3

[ArchivalUser]

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%


Can you explain the answer the answer, plz

[ArchivalUser]

E , Marfan is AD, if he is homozygous, he will definitely pass it to his son who will definitely have the disease

[ArchivalUser]

E,,100%,,,as parent is Homozygous so chance is 100%,,,if parent is Hetrozygous then chance is 50% in kids.

Dx: Marfan's Syndrome,,AD

[ArchivalUser]

thanks I got it