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22q11.2 goldberg and syndrome
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22q11.2 goldberg and syndrome

anyone heard of that?
Tags: syndrome
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1809109_tn?1331807377
I typed in 22q11.2 into google and it came up with DiGeorge syndrome. I've seen someone on here asking about that specific syndrome but so far nothing else. DiGeorge is caused by a deletion on 22q11.2, perhaps they are similar?
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Avatar_f_tn
hi,i have searched so many avenues,and googled also,DiGeorge is not the same,but thankyou so much for trying.they are similar.but not the same.goldberg and sphrintzen not to be confused with shprintzen and goldberg.. i will keep searching thanks again
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1809109_tn?1331807377
Sorry, perhaps you could try to get into contact with geneticists or neurologist from other countries or certain centers that focus on similar diseases/mutations. Sometimes a genetic mutation is so incredibly rare only a few people have it in the entire world and they just don't know where to start.
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Avatar_f_tn
hi,i have done everything you said,my daughter is 1 of 15 in the world,its so hard to swallow,but its true,its been 18 yrs,goldberg and shprintzen,no one knows coz its so rare....i will always keep searchin tho,thankyou for you time
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Avatar_f_tn
hi ducky,just reading bk over posts and see your advice of apologising and saying i could perhaps get in touch with geneticists,neurologists,blah blah blah....from all countries and all mutations and incredibly rare sites alike....with all due respect...i have!  ..met them all! ..for years..i have searched.i could.name them i have not only been in touch with them,i have met them..and the families.....i am genuinely on here searching my arse off for answers hoping one day i will get them...
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Avatar_m_tn
My daughter has Goldberg Shprintzen Megacolon Syndrome
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Avatar_n_tn
I live in the US and my child was just recently diagnosed with this syndrome. We have been unable to connect with other families. for information and support. If anyone is interested in our story, please post. Thank you, Judy
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Avatar_f_tn
hi..has your daughter been diagnosed with gosh...
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Avatar_n_tn
She has been diagnosed specifically with Goldberg-Shprintzen Megacolon Syndrome. The dr did not refer to it as GOSH, but I have seen that name. It involves mutations of the K1aa1279 gene.
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Avatar_f_tn
hi yes I know it too well...iv private messaged you..hope to hear off you..
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