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Old 09-14-2012, 11:19 PM   #5
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Re: Is anyone here familiar with 22q Deletion?

Originally Posted by ssand23 View Post
We are actually seeing a geneticist in 2 weeks about this. Doctors we have seen are concerned about Caylers Syndrome, Degeorge or other 22q deletion disorders. Our pedi dr noticed some facial issues in my ds. A pedi neurologist saw ds in the waiting area of their office informally as a favor to our pedi dr to check our his face & then referred him to a geneticist. My other children & I have a genetic connective tissue disorder & ds also sees a bunch of other pedi specialists as well as the services he receives from Early Intervention.

mom to 1 little guy (12/09) & 3 big girls ('02, '99 & '94)

Do you mind if I ask what facial features they noticed?

Ironically, out of the literally DOZENS of specialists my son has seen - INCLUDING a geneticist - I was the one who picked out 22q deletion off of the internet and matched it up to DS's symptoms. And that includes some of his facial features. We are going to Mayo Clinic on Monday and I am going to ask for them to test him.
[ mom to my cowboy ballerina and my boy-of-steel ]
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