HUM-MOLGEN DIAGnostics/Clinical Research


29 August 1998
Chromosome 5 mosaic 

Apparent patient location: USA

My son had a chromosome test done and it came back 46,xy,inv(5)(p13.1q13.1)(84/100) 46,xy,(16/100).
The doctors said this is not seen very often in the general public. They could not give me any syndrome or effect that this would have on him. He has been in special education since he was 3 years old. He will be 9 years old in October.
He is speech delayed, cognitive abilities are delayed. His dad and I were also tested and came back normal. He was a full term baby but he only weighed 5lbs.
He had very little fat on him. He had a hard time keeping his body temp up.
When I was about 6 months pregnant they found I had a calcified placenta.
Nothing extra was done as far as more vitamins or anything that the baby might not be getting because of this. At three weeks old he had to have surgery for pyloric stenosis. He never really gained weight where he should have been. At seven years old he went from being on the charts three lines from the bottom, to being in the 90th percentile. I would like to hear from anyone has a child or knows someone who has a child with this chromosome abnormality. He can't be the only one with this.

Thank you for any help anyone can give me.


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