Delation of 2nd chromosome...?

[sammysmammy]

I've posted here before about my guy who we felt sure was ASD.We had initial eval with developmental clinic.He wanted us to see psych but he also ordered a butt load of labwork. He(doc) called me today and said Seth has a "significant delation of the 2nd chromosome". Now we have to see genetic clinic. Can anyone help me out here? You would think I would have a clue about chromosomal anomolies...we have two boys with Down syndrome...but I am feeling lost about this. I should add that Seth is adopted, and when we found out about him,birth mom was 7 months along. We thought we were adopting another baby with Trisomy 21...she had been told after triple screen that he had Down syndrome or at least mosaicism. BUT-when he was born there wasn't an anomoly(or so we thought)The hospital of his birth even ordered cord blood study, called us 3 weeks later and said there was nothing. But I've always known there was something amiss.

[askew]

There is some good info out there on chromosome disorders.

You can start here.

Also try this place:
http://www.rarechromo.org/html/home.asp

They have info on each kind of deletion grouped by chromosome number. It will be more helpful when you get more in on the exact break point.

From what I understand there are several chromosome disorders that can manifest like ASD, at least I have heard it mentioned before.

[muldey]

Gabe has a microdeletion on his 2nd chromosome.I really don't know much about it.He has Aspergers as well as Tetralogy of Fallot,a congenital heart defect.He also has a recessed chin and eye folds,and his legs hurt often.His genecticist thinks it's all tied together.I would definatly see the geneticist and see what they have to say.Since Gabe's is so rare,they don't know much about it at all.They had me tested,and I don't have it.We're waiting on the results from his father.They think it's just a freak incident though.Good luck,I hope you can find out more.

[sammysmammy]

I hope we find out more,too.Unfortunately,testing his birthmom is out of the question(we haven't heard from her since he was a few months old)and she claimed she didn't know who birthdad was.
Something that you said,muldey, caught my eye. Legs hurting...hmm. In the last couple months,Seth has started complaining aLOT about his feet hurting. I realize that at this age that may not be unusual,but he doesn't seem to be going thru a growth spurt,and it's never been following a time when he's been on his feet long,etc. I should have also added in my OP that he has been given the prelim dx of PDD...which we fully expected to be ASD at some point. When we went for initial eval,ped remarked that Seth had definite Aspergers indications.