>Susan Sell (Genetics Counselor) called this afternoon and the results of Siena’s tests have come back… the form of Prader-Willi she has is UPD. This is what 25% of people with this syndrome have and it is good news. It is highly unlikely that this is hereditary! And they do not need to do anymore testing because they were able to tell that it is Isodisomy… I am still trying to understand that part of it….but UPD is good news!!
>Fantastic! I'll have to read more about UPD and Isodisomy to know what in the world those two things are but glad to hear some good news!
>Well that is great news. I am still a little confused about the terms also but I am sure we will all understand it as we learn more.
>When ya'all figure it out (been in the South too long) please make me understand what they are talking about.
>Not so sure about Isodisomy, but Uniparental Disomy basically means she has two of my chromosome 15 and none of Andy's…. 70% have just the mother's and not the fathers – a "DELETION", 25% have this kids that Siena has "UPD", and then there are 5% who have both parents, but the father's in non-functioning – this is when there needs to be more testing done because it is highly likely it would be hereditary.
>A little clearer I guess.