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Trisomy 12?

post #1 of 4
Thread Starter 
Hello all,

I don't post much here at MDC but am having trouble finding info on this & thought someone here might know something....

My 6 y/o cousin apparently has a trisomy (or perhaps another issue) within chromosome 12. She's severely delayed, can walk somewhat but has no speech (can grunt and make other sounds though) and has various other challenges. Her facial features are pretty unusual. Her future health is apparently an unknown.

I say 'apparently' a lot because her parents are tricky to glean info from, they're happy to talk about their daughter but don't understand or take in much of what their doctors/carers have told them. My uncle is a little slow, and his partner has a known chromosome condition of some sort. She's lost a baby before due to it, and actually had genetic testing before her daughter's birth that was read incorrectly (ie, everything's normal when it wasn't).

Does anyone know any kids with a chromosome 12 issue? I just can't help but wonder what the future holds for this little girl.

TIA
post #2 of 4
I would recommend looking at this site.

http://rarechromo.org/html/home.asp

That is your best bet for finding info on that particular duplication.
post #3 of 4
In addition to the above,

http://www.chromodisorder.org/CDO/

this group has lists of individuals with rare chromosome disorders, links to research and a yahoo group to join to find others who are similar. Good luck!
post #4 of 4
Thread Starter 
Many thanks, I hadn't seen either of those.
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