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For those of you who have had genetic testing done. What tests were preformed and what disorders were focus of the rule in or out? I am curious because I think my new foster son may be misdiagnosed (or can be more specifically diagnosed)….
we had the microarray done. It checks all the chromosomes for deletions and duplications. My older daughter has a deletion that caused her developmental delays and my younger daughter has the same… read more
My daughter had some genetic testing and they found a duplication of the 16th chromosome. I checked out how many posts on MAT even used the word "chromosome"- just 8 posts and none of them had the exactly the same issue. We were told there's little that can be done with that info but it may help with nutrition as people with this disorder tend to be underweight.
BOSTON, Jan. 9, 2008 -- The deletion or duplication of a tiny region of chromosome 16 appears to be tightly linked to autism… read more
His teacher in the past saw a seizure, I never have, but neurologist wants to check. He had a cardiogram when he was born because of an issue, which cleared by 6 months (PDA ASD - small things)… read more
My youngest ASD child was diagnosed with a chromosome abnormality called Chromosome 15q Duplication Syndrome (or also called Dup15q) thru genetic testing. It basically means that the person was born with an extra chromosome in there genetic makeup (instead of the normal 46 they have 47). She was a year old. I have read that researchers believe that there may be a strong link between Dup15q and ASD. I was hoping to find other Dup15q parents.
My son has duplication15q as does his younger sibling. I was tested and have the exact duplication they do. We are all on the autism spectrum. Geneticists are finding a strong link with specific… read more
it costs about 6k to get genetic testing for my child. I know the DNA parts of it and fragile x (neg).. Where can I get chromosome analysis done for super super cheap?
what i did was that i went to my OGBYN and explained to them that my first son was autistic and that i wanted to have the fragile-x blood test done because i wanted to still have more children but… read more
My daughter had a duplication of the 16th chromosome but they didn't send us more detail yet.
Our daughter was diagnosed with PDD/NOS/autistic twice but diagnosed with fxs at age 12 following a tip that was given to me by a stranger I met on the D.C. metro train! Visit www.fragilex.org and www.fraxa.org for more information and exciting research underway!
Yes we got tested for fragile x and had the chromosomal array, negative on everything but I am trying to look into Mitochondrial diseases/disfunctions. I am told that a small percentage of autistic… read more
Does anyone have a child whose genetic testing showed a triplicate chromosome?! Or MULTIPLE mutations/deletions/duplications, and still nothing that matches ALL of their characteristics?
Our girl was diagnosed with MTHFR double gene mutation. Honestly I think the holistic dr that she was going to was a quack. I have done research on the MTHFR and if you believe traditional medicine it… read more
I just found out that my 19 month old has this variation (through a chromosome microarray). There seems to be more information related to 16p11.2 deletion over the duplication. Anyone else's child have this? Can I hear from your experiences? We are slated to see a geneticist in September. Thanks in advance!
Oh my gosh-thank you so much for this!
My son is 5.....he has HFA, ADHD combo, SPD, and Pica.....he will use the potty at school but fights at home.....he doesn't mind sitting in soiled or wet pull ups or underwear.....he will go potty if he is changing and has to go.....so now my questions......
How long will this last?
Why doesn't it bother him to be in soiled or wet pull ups or underwear?
Why don't rewards work?
Am I alone in this?
I'm tired of smelling my child in public
My 5 yr old daughter loves My Little Pony (understatement). She has a chromosome duplication that causes all kinds of havoc including autistic behaviours. She will potty on toilet prompted but will… read more
After you get a diagnose; do you get the blood testing and the DNA testing to see what is gping on? Does most insurances cover it? I had no idea till this site you could find out more. What are some tests that I should check out? Thanks for the info in advance.
I would ask for a chromosome tests