Summary
Abstract - Project 3 Up to an estimated 1 in 151 women carry a fragile X premutation (PM) allele, impacting over one million women in the US. In addition to being at risk for having a child with fragile X syndrome (FXS), the most common genetic form of intellectual and developmental disability and autism spectrum disorder, women with a PM are also at risk for other PM associated conditions (PMACs). First, women with a PM are at risk for fragile X-associated primary ovarian insufficiency (FXPOI), with 20-30% experiencing cessation of menses prior to age 40. Reduced fertility is the most signifi
