Mosaic Downs Syndrome - any experience?

[hazeyjane]

I found out yesterday that ds (2.3) is being tested for mosaic downs syndrome (the geneticist forgot to add it to the letter informing us of what he is being tested for!) as well as Kleefstra Syndrome. He has had a cheek swab test done twice, but each time they failed to get a sample, so now they would like to do a skin biopsy.

He has gdd, especially in the area of speech, reflux, swallowing problems, recurrent chest infections and mildy dysmorphic features. I just wondered if anyone has any experience of the mosaic form of Downs Syndrome? How was it diagnosed, and what features of downs syndrome do they display? Also whether there are any good resources of information on the internet?

Thankyou.

Hi hazeyjane , my DD has Down's but she has Trisomy 21.

When she was initially diagnosed her consultant took us through the different forms of Down's and talked briefly about Mosaic. From memory DC with Mosaic can have slightly less pronounced characteristics and higher IQs than those DC with the more usual Trisomy 21. There is some information about it on the down syndrome society website, but it's fairly brief. I also found this website www.mosaicdownsyndrome.org/

HTH

I was about to add the same support group!