[ Post a Response | 22q Deletion Interest Board ]
Posted by Meryl on 6/1/2006, 4:04 pm, in reply to "daughter with 22q13.3 del." Our geneticist was unable to refer us to any information about the mosaic form of the syndrome, so I'm eager to be in contact with both families in our area (MA) or families who may know more about the mosaic form. We are still just absorbing the news - swinging between grief and action - but are so happy to know there are supportive families out there (how did we ever survive without the internet?!?!). Feel free to contact me off list or on. Best, Meryl
24.218.144.227
Hi: We just learned that my 2.5 year old daughter, Noa, has 22q13.3 mosaic deletion - the deletion is affecting about 30% of her cells. She had previously been suspected to have PDD-NOS because her primary symptoms is severe expressive language delays, but I kept researching because she just didn't seem to fit most of the criteria. She definitely has motor planning issues, and from what I've now read, a few of the physical characterstics of 22q13.3. She is also a happy, sweet, mellow little girl.
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