Article
Reproductive health of adolescent girls who carry the FMR1 premutation: expected phenotype based on current knowledge of fragile x-associated primary ovarian insufficiency.
Annals of the New York Academy of Sciences - 1 Jan 2008
De Caro John J, Dominguez Celia, Sherman Stephanie L
Abstract excerpt
The fragile X mental retardation 1 (FMR1) gene, located on the X chromosome, is characterized by a dynamic CGG repeat expansion in the 5' untranslated region. It has long been known that female carriers of the FMR1 premutation allele (55-199 CGG) are at risk for passing the FMR1 full mutation (> or =200 repeats) to their offspring, which results in a common form of mental retardation known as fragile X syndrome....
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