Illuminating Fragile X syndrome - an update

17 July 2023

By Dr Nicola Davies

Fragile X syndrome (FXS) is an X-linked dominant disorder characterized by a broad range of clinical manifestations, including intellectual disability, autism spectrum disorder, language deficits, macroorchidism, seizures, and anxiety. About 1 in 5,000-7,000 males and 1 in 4,000-6,000 women are affected by Fragile X syndrome globally,1 with greater severity in males.2

The FMR1 gene premutation

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