Re: Chromosome test
Here's what another mom wrote:
Genetics are VERY interesting....and learning about JUST how Mosaicism(and non-disjunction DS) happens will make it all a little more clear....the problem is that you can LITERALLY have only ONE cell in your body that EVER has 47 chromosomes....and of course you would never know it. So, mosaicisim is sooo complex and profound because no one ever knows to what degree. That women needs to do a few things.... the first and foremost is go see a genetisist. They have more insight there. WHile I don't think everyone who gets a DS dx needs to see a genetisist team, I think in this instance, she should. Also, she needs to be asking these questions RIGHT to that DR. Stand up and ask! She needs to say, well, what happens if this one is negative/positive too! What are YOU going to do? How is it going to change anything? The genetics team will know that TISSUES need to be samples,WHole tisue groups, epithelial,blood(cells),Muscle tissue, etc. ALLLL at once. Which tehy will tell her.I feel bad she doesn't have an answer. There is a family that lives near us that didn't find out until very late taht their son has DS, and he has "regular" DS from what I understand, and he was developing slower......It is all in a DR who pay's attention alot of times. If this child doens't have DS that is great, If he does that is great too, but better to find out early on so he won't miss out on all of these great opportunities!-Court
Good luck and let me know how it goes!!!!!