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Old 10-02-2012, 01:00 AM   #12
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Re: Is anyone here familiar with 22q Deletion?

My son's genetic array test came back normal - meaning, he is not missing any chromosomes nor does he have any duplications. However, they are still suspecting that he possibly falls into the 5% of people who have 22q/DiGeorge due to an alteration on a single gene (TBX1). So now, the challenge is talking our insurance company in to covering the $1500 test to determine if this is, in fact, the case. At this point, it won't alter any of my son's medical management (as he is already seen by just about every specialist available) but I would like to know A) so that I have an ANSWER and know that I'm not just crazy and B) because it could affect him when it comes to him having his own family, with some of these syndromes it's up to a 50% chance of passing it on.

Thanks everyone!
[ mom to my cowboy ballerina and my boy-of-steel ]
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