duplication chromosome 22q11.2

[bekkiboo]

Hi everyone,

My son has the above duplication. It seems quite rare and I was just wondering if there is anyone out there who knows anything about it as the info on the internet is pretty limited.

He was also born with a small brain so we are trying to seperate what is realated to the genetics side, and what is related to his neurological side.

sorry cant help, have you tried this site
www.c22c.org/md22q11.htm

or unique

Second unique - if you join they'll put you in touch with everyone on their database with the same duplication. It's free to join.

www.maxappeal.org.uk/ :-)

Hi have only just read your thread so I hope you get this. My DD has 22q11del and has been told this Emanuel Syndrome. She is 5yrs old has many problems including microcephaly,cleft palate, deaf etc. If this rings a bell I would love to hear from you as itis so rare!
Take care.

Hello, I know this was posted a while ago now. We’re expecting our second child in august. We have been sent for extra screening and discovered that the baby has 22q11.2 duplication. We have been reading up on this but we’re still unclear. We have an appointment this week with a specialist but I was just wondering what your experience has been? It would be great to hear as it’s worrying times for us at the moment with lack of information.

Hello, no experience with 22q duplication but my DS does have 22 deletion (DiGeorge). I believe max appeal also covers duplication? They are very helpful. I also believe the duplication is a lot more mild - lots of people don’t realise they have it at all.