Monday, May 9, 2011

16p11.2 microdeletion syndrome

Dr Z called today to say that this is what came back from the micro-array test she sent away.She was totally shocked as were we,cause we never expected everything to come back normal and we were only doing the test as a formality.

If you read about the syndrome (btw there is not much info out there)you will see that it is linked to speech delays,developmental delays and autism.As many of you know Broc is one of the smartest kids on the block.Also there is only one other case that was mentioned in the literature about a child having Aortic Valve involvement.
The lab is wanting both Mark and I to get tested to see if his is de novo (spontaneous) or if one of us passed it onto him.We are trying to find out if there are other families like us who have no delays but have CHD's.

From what we have read it explains his reflux,aspiration,asthma,Shones Syndrome(which is a name for all the congenital heart defects he has).

It seems like Broc is writing his own book.As soon as we get more info on this I will post it.

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