xxx syndrome

[wendyloo]

Get your minds out of the gutter ;-) My sister found out she was pregnant, and because she and her husband are both carriers of Cystic Fibrosis, she had some genetic testing done. The baby girl has an extra x chromosone (called 47xxx or triple x syndrome). Has anyone heard of this?
Thanks,
Wendy
PS I am so incredibly excited and happy for my sister, who has been trying for about three years to have a baby! Woo hoo, I'm going shopping for a little Arizona Diamondbacks outfit!!! (My sister lives in NY and I live in AZ!) :-jumpy

 

[Colia]

Hi Wendyloo!

Being a pediatrician, nothing came to mind initially with an extra X chromosome - got some books out - read that most of these are probably undiagnosed, as one wouldn't clinically realize that anything is wrong with the child. Apparently there is some chance of sterility and developmental delay. Many of these folks have what is called mosaicism, that is where you have some parts of the body with normal chromosomal numbers (i.e. XX) and some with the extra X (XXX). Those folks would also tend to be completely normal. I hope you don't find this alarming - and like I said, most aren't even picked up because they appear to be completely normal. I can tell you I've never seen this entity presenting as a clinical problem. Many congrats to your sister - hoping the CF test came out negative as well! Please keep us posted!

Cheers!
Colia

 

[wendyloo]

RE: Hi Wendyloo!

Thanks Colia! There just doesn't seem to be much information out there about this one, hopefully because there doesn't need to be!
Yep, the CF test did come out negative Yay!!
Thanks again,
Wendy