fragile X syndrome

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fragile X syndrome

[‚fraj·əl ′eks ‚sin‚drōm]
(medicine)
A hereditary condition resulting from a trinucleotide repeat at an inherited fragile site on the long arm of the X chromosome. Affected males usually have some characteristic facial features, enlarged testes, and mental retardation. Females with on fragile X chromosome and one normal X chromosome may have a lesser degree of mental retardation.
References in periodicals archive ?
My sister's son was diagnosed with fragile X, and I went searching for answers.
When I spoke with 10 parents about their experiences with fragile X, every one of them indicated that their child's general pediatrician didn't know basic facts about the condition and was therefore ill-equipped to provide skilled treatment or (in some eases) to properly explain the results of genetic tests.
For conditions like fragile X, many people who are screened will find out they have the disorder but will derive no immediate benefit from this information.