My baby and I have 2Q deletion

[Bob Konstanty]

Hello, My story is a strange one. Our baby was born June 24th 2003 and was full term. However, she was underweight,undertoned, and had vision problems. First impressions were that she would have cerebral palsy. and possibly be blind, crippled, and retarded (a lot to handle all at once). All of these turned out to be untrue. She had taken many tests and everything had come back negative. The last test we took was for the tips of her chromosomes. As is turns out, She has a 2Q deletion and the geneticist asked my wife and myself to have the same test to see if either one of us had the same condition. **If either one of us did have a 2Q deletion, then the fact that our baby had it would be CLINICALLY INSIGNIFICANT.
Well the results are in and I have the deletion so we now have to find another reason why our baby is developmentally delayed (by the way, I am completely healthy/normal). We haven't met with the geneticist in person yet bit it will be interesting.

Bob [e-mail]

[Jeannie]

Mr. Konstanty,

I just read your message. I would like to give you my input on your situation and I hope you don't mind. If your child has developmental delays and doctors have detected a chromosomal deletion--that IS the reason for the delays. My son has a 2q 32.1-33 deletion and he has severe developmental delays. Just because you have the deletion and you appear to be healthy and normal doesn't mean that your child will not be affected differently by the deletion. Chromosome deletions present themselves in many different way and some may be as insignificant as irregular increases in the palms of the hands. Basically, you have been very lucky to not be affected by your deletion and I hope that your child will fare as well as you have in the long term. If you are interested in talking about your childs delays I would be very interested to hear specifically what the symtoms are and hopefully I can use my own experience to help you deal with them. Thank you. Jeannie Morales

[crissy]

my son has chromosome 2 partial deletion and we his parents were sent for testing and it turns out that i have the same thing,(i am normal)i would be interested in your childs symtoms if you would'nt mind sharing?
Thankyou,
[e-mail]