Background

Fragile X syndrome is the most common type of X-linked mental retardation. The detection of fragile X syndrome and CMA have been recommended as a first-line diagnostic method to find and eliminate the genetic cause of unknown mental retardation.

46% of male and 17% of female pre mutation carriers develop tremor ataxia (FXTAS) after age 50. 20% of women with pre mutation will have primary ovarian dysfunction (fxpoi); 2% - 7% of women with sporadic ovarian dysfunction are pre mutation carriers, and 10% - 15% of women with positive family history are pre mutation carriers.

Requirements   

FMR1 test and risk