Fragile X syndrome is caused by an alteration to a gene on the X chromosome
There are calls for GPs to test patients for a genetic disorder that's the most prevalent inherited cause of learning disabilities. Experts have expressed concern over the 'surprising lack of awareness' surrounding Fragile X syndrome. , which disrupts the production of a protein needed for brain development.
Potential carriers are typically identified through family history, which may include Fragile X syndrome or related intellectual difficulties, developmental delays or autism without determined causes, as well as infertility concerns connected to increased follicle-stimulating hormone levels or premature ovarian failure. Women who experience ovarian insufficiency have a 2-15% chance of being a carrier for Fragile X.
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