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Chromosome 16 Duplication

Chromosome 16 Duplication

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

A MyAutismTeam Member said:

@A MyAutismTeam Member. Definitely find out what the chromosomal abnormality is. My sons abnormality is linked to autism, ADHD, ID, schizophrenia & other medical problems. I've done a lot of research on it. He is high risk for Thoracic Aortic Aneurysm & Dissections. I would have never known if I hadn't had the testing done. I will be relieved when his heart is checked.

edited, originally posted almost 6 years ago
A MyAutismTeam Member said:

@A MyAutismTeam Member, one of the things we noticed at birth was that my daughter had one toe, the one next to the little toe, that was bent and kind of overlapping another toe. There's a mom who writes about her daughter http://autismasithappens.blogspot.com. Her daughter has the same bent toe. It was a weird coincidence or something else.

posted almost 6 years ago
A MyAutismTeam Member said:

I had a test done while pregnant and it came back abnormal. He does not have downs or spina bifida. So I am think that his autism is why his chromosomes were abnormal. I am going to get the doctor to investigate this further. Thanks you guys just opened my eyes to something's.

posted almost 6 years ago
A MyAutismTeam Member said:

@A MyAutismTeam Member, for the info. My wife is an RN, too.

"The most common characteristics seen in people with a 16p11.2 duplication include a low weight and a slightly small head size; affected individuals also have an increased risk of behavioral problems. However, some people with the duplication have no identified physical or behavioral abnormalities."

That's odd. Originally, a doctor thought my daughter had such a big head that she had craniosynostosis.

"Developmental delay and intellectual disability can occur in people with a 16p11.2 duplication, but most have normal intelligence. Affected individuals can also have features of autism spectrum disorders, including impaired communication and socialization skills, as well as delayed development of speech and language. Behavioral problems associated with this chromosomal change can include attention deficit hyperactivity disorder. Affected individuals also have an increased risk of mental health problems, including schizophrenia, anxiety, and depression."

She has a developmental delay, poor communication and social skills, ADHD but we haven't any seen schizophrenia, anxiety, and depression.

"16p11.2 duplications have been estimated to occur in about 3 in 10,000 people."

So my kid is even more of an exception even compared to other people with ASD.

"Most affected individuals inherit the duplication from one affected parent; they may have similar characteristics of the condition as the parent, or they may be either more or less severely affected."

Neither of us has ASD; although, it makes me wonder if I had any problems that limited my own potential.

posted almost 6 years ago
A MyAutismTeam Member said:

My son has 16p13.11 micro duplication.. linking him to autism, ADHD, Speech delay, Cognitive delay.

Now children, people are different, so not everyone who has this disorder has these problems. Some have intellectual disorders, Congenital heart defects, schizophrenia, seizures, (basically any frontal lobe neurological problems) and muscular problems. 16 deals with smooth muscle. A duplication an issue examples i have read about cysts on the heart, heart not forming correctly, muscles forming incorrectly (but forming), throat swallowing problems, unable to digest. NOW a deletion (keep in mind removing any portion of a loci is bad) muscles were not forming or at all, children were unable to walk before 3 some case were 6, intellectual delay severe combined with autism.. anyways this is about duplication and deletions are sad poor little ones.

Some people are effected differently based on environmental exposure,, chemical exposure, and on and on.

Not everyone is effected by Chromosome duplication, they might be and not know it, in 16p13.11 a case study stated the least reported case stated "the individual was just an angry person" - not sure what that was about but okay then. Heart problem (mur murs, slight defects etc seem on cardiograms) are common too. Some stated hormonal imbalance but there was no clarification. Science is tricky, they only found out about my sons syndrome linked to autism in I think 2006 before that it was only ADHD, and before that it was only a couple cases with schizophrenia.

ADHD. If not treated, I know a lot of people are anti meds, but if not treated autism , speech delay, cognitive delay, etc is worse. Example. A child might only have Aspergers or PDD but with the ADHD it becomes severe autism (sometimes, based on the child of course). But in my sons case he has a lot of ADHD, he's very very well behaved, but he does not focus on important thing such as the car coming down the street, his brains too busy, the trees or flowers or other car parked or 50 other things he is memorizing. It disrupts speech because 100 things are more important then asking for a drink, but he wants one, and he gets frustrated. (Its better to look up ADHD effect with autism) anyways if anyone is still reading this I know 16 chromosome duplication (any of them) are rare so hope this helps anyone out

posted over 5 years ago
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