Microduplication of 22 Q11.2?

bekah22587@hotmail.com

Does anyones kid have this? My son was just DX today and I want to know what I can expect(other then they are growth delayed). I want to good bad and the ugly.

Intro:

My name is Rebekah and my DS is 15 months old. We've been on a rollercoster for almost 10 months trying to figure out why he wasnt growing. I was hoping to never have to make a post on here(like most parents I'm sure). However, here I am. Thanks in advance for any informaton you have.

BrookeAWestling

 my lo likely has a microdeletion of 22 q11.2, aka VCFS/DiGeorge Syndrome (we are foregoing amnio for post-natal genetic testing due to the risk of miscarriage but the markers are there). From what I've read, microduplications and microdeletions of 22q11.2 share some characteristics, but they're not the same thing.

I have found specific support groups to be really helpful. With such a rare disorder, it's not very likely to find a lot of other people who can relate on boards like this, but they are out there! You just have to look for them

Good luck, and congratulations on your diagnosis, that's huge. Remember that your ds is no different than he was the day before you identified the problem, now you just have the info you need to help him better. 

thefuturemrskudla

is this Emmanuel Syndrome? If so, there are many web resources available (a friend of mine had 2 children with ES).

MAtoNC

Hi, Rebekah, welcome to the board. 

I do not know anything about this specific duplication, but I do not think it is Emmanuel Syndrome.

When I was researching my son's chromosomal anomaly (he has an inversion), I found the NIH's website very helpful. Here is a link to their page on 22 Q11.2 duplication: https://ghr.nlm.nih.gov/condition/22q112-duplication

There is also a 22 Q11.2 microduplication community of parents at https://www.rareshare.org/communities/microduplication-22q11-2-syndrome

 I'm having a hard time making them clicky, sorry.

 

bekah22587@hotmail.com

Thank you so much ladies.

gremaud07

My son has Deletion of 22 chromosome, DiGeorge syndrome.  He was diagnosed after he had open heart surgery at three weeks old.

After his heart surgery has been delayed slightly with speech and walking.  He is in early intervention and has had physcial and speech therapy since he was around six months old. 

If you have questions you can email me gremaud07 at yahoo dot com

telfakaye

Sorry sorry I don't know about the micro duplication, but my dd has a micro deletion of 22q11.2