
Posted by Ali Di Maggio on 3/14/2005, 5:30 am, in reply to "Re: My daughter with CES"
66.119.33.152
Hi Ettina,
This is Fabyans karyotype
47,XY + r(22)(p11.2q11.2)/46,XY.
I am told it is Mosaic Ring 22 Trisomy.
I have not been able to find any others exactly like this.
The geneticist here told me that he will have the characteristics of CES. I don't really know why but maybe it is to do with the breakpoints .
We have since found that Fabyan inherited his Ring 22 from me.
Hope this helps
Ali
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