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    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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    Quote Originally Posted by turquoisecoast View Post
    is that trisomy 2 and trisomy 13? t13 is patau's syndrome and it's pretty rare. t2 I've never heard of but I just googled and it says it can cause forms of cancer??

    neither sounds particularly appealing. Hope you/your kids are ok.
    It's genetic apparently and nothing can be confirmed until the parents are tested. I've googled the ones they found and seriously she has none of the written symptoms. Except the low birth weight and the fact that she's not eating much at all.

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    Quote Originally Posted by AdornedWithCats View Post
    If it's just a bit then it's a partial trisomy. The symptoms/outcomes etc will depend on what the extra bit is (which genes it contains).
    It is just a bit extra they said. But we need to get tested.

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    Quote Originally Posted by Nafsika View Post
    It's genetic apparently and nothing can be confirmed until the parents are tested. I've googled the ones they found and seriously she has none of the written symptoms. Except the low birth weight and the fact that she's not eating much at all.
    all the best with the testing and results. hope it's nothing serious.

  5. #15
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    Quote Originally Posted by turquoisecoast View Post
    all the best with the testing and results. hope it's nothing serious.
    Thank you....I just need her to get to eat something....

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    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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    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).

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    Quote Originally Posted by missmilliesmum View Post
    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).
    Good morning, thank you for checking in. I actually received a letter yesterday and I'm waiting for a letter to go in. They said it will be within the next 4 months. My husband's and my results won't be back for another 9 weeks or so.

    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.

  10. #19
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    And yes, she's hitting her milestones. Sorry, didn't answer that before.

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    Results are in......grrrrrrr


 

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