Diagnosing Fragile X Syndrome

Introduction

The genetic disorder Fragile X syndrome, which results from mutations in a gene on the X chromosome, is the most commonly inherited form of developmental and intellectual disability.

NICHD supports and conducts research on the diagnosis, treatment, management, prevention, and inheritance of Fragile X and its associated conditions, Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). All three conditions result from changes in the same gene on the X chromosome.

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