As I said in your other post, my son has 22q11.2 Deletion Syndrome, Velocardiofacial Syndrome, DiGeorge Syndrome, Schprintzen Syndrome, CATCH 22, etc etc etc. There are about a dozen names for the syndrome, but they all describe the same thing, a cluster of symptoms stemming from a deletion on chromosome 22 at location q11.2.
Before I go any further into describing 22q, note that the symptoms overlap many other chromosomal syndromes, as MomToAlexSarah said, her daughter has a clinical diagnosis (FISH test has been negative for 22q deletion), AndVeeGeeMakesThree's daughter was thought to have 22q but turns out she actually has a novel partial trisomy (she's the only recorded case in the world right now), and like I said in my other post, a cousin of mine has similar symptoms and turns out she has SEVEN chromosome abnormalities.
So, while several of us mentioned 22q to you, it's still very possible that your son/daughter have a different chromosome issue, or no chromosome issue at all. I just wanted to show you that FAS/FAE was not the only possibility.
22q is usually DeNovo, meaning that it was not inherited from a parent. However, if a parent has the deletion, they have a 50% chance of having a child with the deletion. It can not "skip" a generation, so if it was inherited, it came from either you or your husband. Let's say that your sister had 22q which caused her heart defect, then you would also have to have it in order for your children to have it. The symptoms can be very mild and the syndrome can go unnoticed for generations. Example...a child at our hospital was born with a severe heart defect. Genetic testing found 22q. They started testing family member and made it back 5 generations with positive tests. No one had known! There were some mild learning disabilities in the family, but who thinks genetic syndrome just because of learning disabilities? No one. Similar story in my son's Ped office. Little boy born with severe heart defect, testing found 22q. Turns out the mom had it too! Her only symptom was delayed speech as a child and some mild gross and fine motor issues that she overcame on her own.
In our case, our son Connor was born and something was *obviously* wrong. Immediate breathing issues, severe feeding issues, he looked "off" with very strange ears, his lower jaw was very recessed, he actually looked Down Syndrome to me initially with wide spaced eyes, flat nose, smooth upper lip. We were so focussed on the immediate issues of feeding, weight gain, breathing (turns out he has a significant airway malformation), and reflux, that several months went by before we could start trying to figure out the root cause of his issues. He was 11 months old before we got the right genetic testing done (by "right" testing I mean the Microarray, first they did a chromosome analysis which did not find his deletion)
Connor does not have a typical cleft palate, but he does have a lot of palate issues. He does not have a known heart defect (although suddenly we're hearing a murmur again, he had an echo that was clear). He likely had some urinary reflux (had a UTI at 9 weeks old) but his VCUG was clear a few months later. He does have not the calcium issues common in the syndrome.
He does struggle a lot with immune system issues. Speech is severely effected. Growth is severely effected (3.5 years old, 26lbs, 36in). Significant fine motor issues. Airway malformation. Food allergies. Hearing loss. He has overcome all of his feeding and GI issues (with the exception of the food allergies remaining) He is definitely cognitively behind where his brother was, but some of that may be related to speech and hearing.
I need to get off the computer, but I'll be back to talk to you more.