Anybody else on here have a child/children with 1q21.1 microdeletion syndrome?

[Camlet]

As the title says really? I have joined the Facebook group but don't really use fb much tbh so wondered if there is anybody here that would like to chat? I know the chances are slim as it is rare but thought it might be worth a try xx

 

[michelleann]

Hey hun
we are waiting for Evies Micropannel to come back so she may or may not have this currently we have Congenital CMV, Microcephally, GORD, Micropolygyria, Evie is only 5 months old and already being seen by so many different people its scary and feel very sad for her
How are you coping hun?

 

[RachA]

Hi.

Hope you find some others that have this. I'm new to the whole chromosome game but we recently found out that our daughter has a delation in 1 place on chromosome 2. I can't remember the exact location of it though. I think its on the short arm and one of the pair is fine and the other has the deletion. It appears to have caused issues with E's speech mainly and a little with her motor skills.

 

[gezma]

I'm pretty sure my son has this, I will get out his notes to double check. He definitely has a micro deletion, and it also affects his speech, understanding x

 

[gezma]

Just checked and my sons is xq22.3q23. X