My son has a deletion on chromosome 16 q 12.2

Carla - posted on 05/07/2012 ( 4 moms have responded )




My 7 year old son , Harrison, was diagnosed with a chromosome deletion on 16 q 12.2.

He was tested due to concerns at school with learning and a delay in thriving.

The resulting diagnosis helps little as dr cannot confirm or deny that this is the cause of v. poor memory , attention, poor enamel and grinding, faecial impaction, bedwetting and unbalanced movements.

He has low set ears, narrow face - to quite a pointed chin, slim chest with wide set nipples.

Would really like to speak to a parent who has similar deletion in their child and how that may have impacted on their learning,

Thanks - Carla


Iridescent - posted on 05/09/2012




There are a lot of different chromosome defects that tend to cause similar disorders. Each one is actually pretty rare, so it's unusual to find others with an identical one. There is a database of sorts called UNIQUE at - you register, register the defect, and they'll send info and contact for others with similar disorders. They also allow you to browse others that may be what you're looking for.

The body features very likely are the result of the chromosome disorder. Have you/his father also been tested? If not, you may want to request it, especially if there is a potential for more children. It would help a lot to know if his change was only in him or inherited to prevent it in future children, or identify it in currently living ones. I'd also request (especially) neurology appointments if you haven't already had them to follow up on his memory and attention and movements, as well as orthopedic for the movements (possibly help with Physical Therapy), and Gastroenterology for the fecal impaction. These are just suggestions, but if he doesn't have these doctors already I'd try to get them set up. Last, work with the school for adaptations for the problems he's having - a pill is not always the best treatment, and Occupational Therapy can go a long ways towards learning to control behavior and finding out his attention span and working with it to help him learn.

There is also a board on COM for special needs children - - and you are more than welcome to join!


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Marina - posted on 01/29/2014




hi my name is marina and my littie girl has the same deletion as your son 16q12.2.if you want to talk my email .

Katherine - posted on 05/09/2012




Sorry to hear that. I have never heard of this but I know of someone who might know. I'll go track her down.

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