Article
An effective strategy of using molecular testing to screen mentally retarded individuals for fragile X syndrome.
Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Mar 2001
Tzeng C C, Lin S J, Chen Y J, Kuo P L, Jong Y J, Tsai L P, Chen R M
Abstract excerpt
Fragile X syndrome (FXS) is the most common form of familial mental retardation (MR). It is caused by the expansion of the CGG repeat in the FMR1 gene on the X chromosome. To date, FXS is not treatable, but can be prevented by prenatal genetic examination. Identifying women who carry a full mutation or premutation FMR1 gene is thus very important, and can be done by tracing family members of FXS subjects....
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