FRAGILE X SYNDROME (FMR1 AND FMR2) (O.S.)

Overview

The fragile X syndrome is the most common inherited cause of mental retardation, affecting males and females. The term “Fragile X syndrome” is commonly used to refer to the syndrome caused by CGG expansions in FMR1 gene. However, in a small number of families, another fragile site has been linked to expansions at the nearby FRAXE locus of the FMR2 gene which is 600 kb distal to FRAXA.