1q21.1 microduplication....anyone?

5 replies

MamaG · 16/02/2013 18:05

Ds2 just been confirmed as having this. Is 4. Developmentally delayed and blood tests brought this result.

Consultant couldn't tell me much and I'm waiting for appt with geneticist.

OP posts:

Bluebirdonmyshoulder · 16/02/2013 18:27

Hi MamaG, have you heard of the charity Unique?

Here's the link to their 'Disorders Leaflets' page, 1q21.1 microduplication is listed in the first section.

www.rarechromo.org/forum/DisordersLeaflets.asp

A word of caution - make sure you're feeling robust when you read these leaflets as they are very detailed and contain 'worst case scenarios'.

Honking for you.

jomaman · 16/02/2013 18:28

Hi MamaG,
I don't have any specific info about that microduplication, but there is a great charity called Unique which has info and support for chromosomal problems ww.rarechromo.org
hope that helps and the wait isn't too long.

beautifulgirls · 16/02/2013 20:17

Take a look at Simons VIP connect website - they are doing some research for your sons duplication. They have been a great source of info for us as they also study another chromosome that my daughter has a problem with. Also if you are a facebooker put 1q21.1 into the search box and there are groups there for families affected by the same - in our case this has also been extremely helpful.

Original poster

MamaG · 21/02/2013 00:10

Thanks all. I've looked at all mentioned, not a lot out there on this

OP posts:

LackaDAISYcal · 21/02/2013 00:19

Hey MamaG. Sorry to hear this about DS2 . No experience or info, but wanted to lend some support.

I hope you can find some answers to your questions and get you and DS2 the right support xx

Flip