I have read a ton of information on Angelman Syndrome and I will tell you I still struggle to understand the complexities of genetics. On the new www.angelman.org website, I found a very easy to understand illustration on the different genetic mechanisms of AS. Please see the following link.
http://www.angelman.org/healthcare-professionals/genetic-mechanisms-of-angelman-syndrome/
They believe that Kendal has the "Imprinting Defect" and they are currently running DNA testing to confirm the defect. The blood work was done about 4 weeks ago and I'm not sure what the turn-around time is for this kind of testing. I think it's so weird because Angelman Syndrome is so rare, and then to have a child that is even more unique because she is not like most children with AS. Kendal is literally 1 in a million.
Saturday, November 15, 2008
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