...that we don't have Fragile-X syndrome, which as you can imagine, we are pleased about. However other investigations continue to see if any other chromosomal abnormalities are present. Funnily enough, the search has shifted away from the boy to the possible cause of my own eye problems: namely STICKLER SYNDROME. There is an interesting website and support group here.
2 comments:
Make sure they used the Southern Blot and PCR Analysis to test for Fragile X. If they used only chromosome analysis you need to have him retested using Southern Bolt and PCR. Chromosome Analysis was the test they used prior to the discovery of the gene and has proven unreliable. If they didn't provide you with CGG repeats, that is a possible indication that they ran the wrong, older, less accurate (40%) test. Southern Blot with PCR is 99%+ accurate.
Sally
Also, check out:
http://www.fmr1resequencing.org/
Wow, Sally, thank you for that. We are due to go back and see them at some stage so I shall certainly flag up those concerns. Thanks also for that link.
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