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#1 |
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Join Date: Jul 2008
Location: between the Mississippi and a cornfield
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Is anyone here familiar with 22q Deletion?
I have been struggling recently with putting the pieces together for my son, Owen, who has a snowballing list of diagnoses. I recently stumbled upon 22q Deletion Syndrome and the summary I read seems to fit...was just curious if anyone was familiar enough with it for me to ask a few questions. Thanks!
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#2 |
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Re: Is anyone here familiar with 22q Deletion?
Sent you a pm
Last edited by mom2cse; 09-01-2012 at 07:03 AM. |
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#3 |
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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)
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Stephanie,
Mom to my girls ('94), ('99) & ('02) And my little guy (12/09) |
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#4 |
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Re: Is anyone here familiar with 22q Deletion?
My daughter was tested for it I believe, but ended up having Noonan Syndrome.
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Court Mom to Mason (3/2003) and Maddie (11/2007) and Morgan (3/2011) |
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#5 | |
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Re: Is anyone here familiar with 22q Deletion?
Quote:
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.
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#6 |
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Re: Is anyone here familiar with 22q Deletion?
Have you had a chromosome analysis done? The best one to have done is a FISH test...it is a very in depth chromosome analysis. My daughter has a deletion on her 8th chromosome and an addition on her 10th. My daughter has very few facial anomalies. She has a lower hairline and low set ears...that is pretty much all she has. The only other physical feature she has are her pinkies curve in.
If you have any questions, let me know. I realize it is not the same chromosomes, but I might be able to answer some questions.
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#7 | |
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Re: Is anyone here familiar with 22q Deletion?
Quote:
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#8 |
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Re: Is anyone here familiar with 22q Deletion?
Here's a photo of ds. You can see where his lower lip droops on his left but then is just straight on his right. He always does this, he can't help it. If you google Cayler's syndrome & look at the images, you'll see everyone doing this, too. Well not doing this but their faces look the same.
We saw the geneticist a couple days ago & will be going for the blood work in a couple days (waiting on another blood work rx from another dr so we can just get all in 1 shot). ![]()
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Stephanie,
Mom to my girls ('94), ('99) & ('02) And my little guy (12/09) Last edited by ssand23; 09-22-2012 at 08:22 PM. |
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#9 |
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Re: Is anyone here familiar with 22q Deletion?
Hope your appointments have gone well this week and that you're well on the road to finding some answers.
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