Join Date: Jun 2007
Location: Dayton, Oh WPAFB
Mentioned: 0 Post(s)
Tagged: 0 Thread(s)
Quoted: 0 Post(s)
Congratulations on your son!!!!
My son has a deletion on Chromosome 22, but from what I have read, the symptoms can be similar whether it be a deletion, duplication, ring, etc.
Askew gave you some good links. What you need to find out (before the geneticist appt if you can) is exactly the mapping. My son, for example, is 22q11.2 deletion, meaning that he is missing a piece of his 22nd chromosome at location 11.2 Your son might be 22q11.2 duplication, meaning that he has duplicate of that genetic material at that location. The location matters because every piece of the chromosome controls different areas of the body. Children with 11.2 deletion, for example, very frequently have cardiac defects, but children with 22q13 deletion might not (I don't know, I'm just using that as an example).
You can also seek out others with that exact duplication if they exist, but first you have to know what the duplication is.
It may be hard at first to find people with the exact duplication, because as you found, there's a lot of misdiagnosis going on. I'm assuming that the test your son had done was a "microarray", which is a relatively new test (in the last 5 years) so before that, there wasn't a test available to find this kind of duplication. Therefore kids were being diagnosed FAS.
When my son had his microarray done, the geneticist warned us that the test might come back with an abnormality that they don't know how to interpret. She said that it's likely that a portion of the population is walking around with genetic defects without knowing it, and chalk it up to individual quirks. So it might be a few more years before enough of these tests are done and syndromes are named and prognoses are laid out.
So unfortunately no one can tell you what's in store. Even if your son has a recognizable syndrome (like my son, my son's is actually rather common), there's still so much variance in the presentation of the syndrome. My son has NO cardiac defects, for example, which is one of the hallmarks of his syndrome. No one can tell me why he has no cardiac involvement, but we thank our lucky stars about it! So that changes things a lot for him.
Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)