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Fragile X: Coming to light

A genetic disorder that causes learning disabilities is sadly still under-diagnosed. Maggie Jones uncovers Fragile X

A genetic disorder that causes learning disabilities is sadly still under-diagnosed. Maggie Jones uncovers Fragile X

Fragile X syndrome is the commonest inherited cause of learning disability. One in 4,000 males and one in 8,000 females has the condition. The syndrome was first recognised around 30 years ago and it seems astonishing that it is still so under-recognised.

Unusual gene Fragile X is caused by an unusual gene on the X chromosome which prevents the production of a particular protein in the body. No-one is quite sure what this protein does, though it is clearly important for the development of normal learning and behaviour. Because it is carried on the X chromosome, boys who inherit the gene are normally more severely affected than girls.

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