bflare Posted June 25, 2019 Share Posted June 25, 2019 I have a rare medical condition that can affect 1 in 5000 to 1 in 40,000 depending on the subtype. I have been clinically diagnosed but awaiting genetic testing. There are 12 subtypes & some are autosomal recessive or dominant. I believe due to the inheritance pattern the condition I have is autosomal dominant. I believe this because my son, me, my father & his mother all have the condition. For it to fall into the autosomal recessive category it would be highly unlikely to be passed through 4 generations given that both parents would need the mutated gene. From what I have researched it appears to be autosomal dominant given that only one parent needs to have the mutated gene which would mean there is a 50/50 chance of it been passed down through generations. Could someone please confirm this? Link to comment Share on other sites More sharing options...
CharonY Posted June 25, 2019 Share Posted June 25, 2019 9 hours ago, bflare said: From what I have researched it appears to be autosomal dominant given that only one parent needs to have the mutated gene which would mean there is a 50/50 chance of it been passed down through generations. That is correct. The overall likelihood is of course difficult to ascertain with limited data and can depend on a lot of different factors, including prevalence in a specific population group. Link to comment Share on other sites More sharing options...
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