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L'X fragile sera vaincu | Fragile X will be conquered

The fragility of genetics

The Irish Times – Claire O’Connell

When her daughter was diagnosed with Fragile X, Maria Panza says the isolation she felt was terrifying

‘IT’S LIKE a bomb has been dropped on you.”

That’s how Maria Panza from Co Kildare felt when she found out that her daughter Alesia (then aged two) had Fragile X, a genetic condition associated with a spectrum of learning difficulties, anxiety in social situations and delays in speech and language development.

The rare, inherited condition centres on the FMR-1 gene on the X chromosome and the full syndrome crops up in an estimated one in 4,000 boys and one in 6,000 girls, according to Panza.

She adds that as many as one in 130 females and one in 775 males are carriers of an FMR-1 “pre-mutation” for Fragile X, which can be linked with early menopause and Parkinson’s-like tremors in adulthood.

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