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Understanding Fragile-X syndrome

Fragile-X syndrome affects the developing brain, while the baby is still a fetus. In 1991, researchers found that people with Fragile-X have an altered version of a gene that makes a brain protein. This DNA variant causes the gene to be switched off, so it no longer makes any protein. Scientists don't yet know how this protein usually functions in the developing brain.

Chromosomes from a boy with Fragile-X syndrome, showing the 'fragile' point of the X-chromosome (arrowed).
Chromosomes from a boy with Fragile-X syndrome, showing the 'fragile' point of the X-chromosome (arrowed).
Jonathan Dore, Regional Cytogenetics Unit, St Mary's Hospital, Manchester

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