I have results for my kiddos and the "interpretation" is like reading Greek! The dr. said every anomoly (missing genes or extra genes) was either likely to be benign or that its clinical significance simply wasn't known, yet, except for one that might point to Albright's syndrome for my oldest.
The testing was done to rule out OTHER causes of mild cognitive delay (FASD had already been clinically evaluated and found to be present in all three, though mild to "less mild"), and to see if they had a genetic cause since all three seem to have at least some delay that hasn't improved significantly after 6 years of interventions.
Results: 13-yr-old had 6 chromosomes that were affected (either absent genes or extra genes)
12-yr-old and 10-yr-old each had 4 chromosomes affected
Would love to compare CMA results with any other FASD families to see if some are the same...OR with families with Albright's Syndrome (which my 13-yr-old MAY have. Waiting on followup analysis to see if this is the case.)
Thanks to any who can help me understand this stuff! ;)
My son doesn't have FASD but he does have a genetic deletion. I found the best way to get information is to google the actual deletion or duplication. For example, my son has a deletion at 16p11.2 so I googled "deletion 16p11.2" and got a ton of information including support groups, facebook pages, etc.
Good luck!
We also did genetic testing to rule out anything else (we don't have a diagnosis of FASD yet). My son only had one (benign) deletion as well, it was a chromosome that sometimes relates to skeletal abnormalities (which my son does not have). So, it didn't tell us much.
Hmm. So both of your kiddos have only 1 chromosome abnormality?....And mine have 4 and 6. I wonder if that's significant? Or if there's a typical # of abnormal chromosomes with FASD or other developmental delays?
EtA: Thank goodness my oldest didn't have Albright's (where carilage calcifies--very painful), but she does have "stiff joints." Chiropractic helped with that.