Rare Chromosome Disorders/Syndromes? - Page 5

[mariakelliher]

we have just found out that my niece has a rare chromosome disorder she is now 12 and was told she had retts for the past 10 years

[SpottedFoxx]

Originally Posted by RoadWorkAhead 

While this is bumped, I'll add us to the list. DD was just diagnosed with a 16p11.2 microdeletion. She has some odd medical problems that aren't typical for her deletion so far as I've found. We're waiting on more from the geneticist once our blood tests are back to determine whether it was de novo or not.

My son also has 16p11.2 microdeletion.  You should check out Simons VIP.  They have a fantastic study going.  We participated this summer and it was a wonderful experience simonsvipconnect.org

Feel free to PM me if you have any questions.

[teen07]

Hi everyone,I am new to mothering,i hope one of the members can relate or know anything about the duplication of the 2q33.1,,my bg was 9wks prem has many many heart and cardiac defects already has had one open heart another one after christmas,she also has extensive brain injury significant with hypoxic ischaemic injury,white matter damage,interventricular hemorrhages,second mri is tuesday,this should give all relevant details and information regarding the severity of the damage and where damage occured and any changes,any info would be appreicaited,teenx