Fragile X Info Series: Females and Fragile X

Fragile X Info Series: Females and Fragile X NATIONALFRAGILEX FOUNDATION FRAGILE X INFO: FEMALES AND FRAGILE X Overview Fragile Xis a group of conditions associated with changes in the Fragile X gene — called FMRl — located on the X chromosome. [...] Females with a Full Mutation Females with a full mutation exhibit a wide range of characteristics, though they usually have milder symptoms than males with a full mutation. [...] This is because females have two X chromosomes (males have only one), and the unaffected X chromosome can often compensate to varying degrees for the one with the Fragile X mutation. [...] For more information: Uniqueness of Females with FXS Females with Premutation Females with a premutation are at risk to have a child, male or female, with Fragile X syndrome. [...] The larger the number, the higher the risk for expansion from a premutation to a full mutation if it is passed on.