I hope you and your family are ok!? My DS got diagnosed with a rare genetic disorder Mecp2 duplication syndrome in May of this year after microarray genetic testing. Me and his father were also tested where I came up positive as a carrier also. If you would like some good websites or Facebook groups to visit for rare genetic disorders feel free to message me. I'm in a few general rare genetics groups myself. I hope you are going ok.
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12-12-2015 05:19 #11
12-12-2015 07:19 #12
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12-12-2015 09:36 #16
As far as I know when it's partial the severity can vary quite a lot. Good luck with the testing/results.
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11-01-2016 18:33 #17Senior Member
- Join Date
- Jan 2008
How are you going OP? My DD (7) has a deletion on 22 and a duplication on 8. Have you been in touch with a geneticist or genetic counsellor? I can highly recommend the team at WCH. Anne Baxendale (Counsellor) in particular. There are no definitive answers with deletions and duplications generally as they can't even tell if the size of deletion/duplication impacts the severity of symptoms in most cases. How is your daughter developing? Meeting her milestones? What led you to testing? My daughter was severely delayed and we were looking at a diagnosis of autism when her FISH and Microarray tests came back. I am also a carrier (I have what's called a balanced translocation and my daughter has an unbalanced translocation).
12-01-2016 07:41 #18
My girl has a duplication (only a little bit) of 2 Chromosone. If I hadn't checked why she wasn't eating or not gaining I wouldn't of known.
However she's eating and gaining now.
Your welcome to send me a private message if you like.
12-01-2016 07:42 #19
And yes, she's hitting her milestones. Sorry, didn't answer that before.
16-03-2016 21:20 #20
Results are in......grrrrrrr
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