dd2 (age 4) has already been tested for Rett and Angelman syndromes (negative). I am now wondering (having trawled the internet obsessively )whether she has Cri du Chat syndrome (deletion of part of 5th chromosome) - she has always had quite a 'squeaky' cry and does seem to have quite a few of the other characteristics including microcephaly, epicanthal folds, hypotonia, poor appetite/eating, delayed mobility and no speech (sounds depressing in a list like that). However, her chromosomes have already had an overall general review.
Do the experts on here think it would already have been picked up if she had this or would it need to be looked at in more detail? Thanks
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Another chromosome question for the experts
13 replies
Caroline5 · 05/07/2005 20:47
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