fragile X syndrome


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Related to fragile X syndrome: Williams syndrome, tuberous sclerosis, Klinefelter syndrome, Down syndrome, Rett syndrome, Angelman syndrome, Turner syndrome, Prader Willi syndrome

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 ?
The study involved mice genetically altered with FMR1 mutations that exhibited symptoms of fragile X syndrome.
While there is no cure for Fragile X syndrome, early intervention to help the developing brain may benefit some affected children.
Triplet repeat polymorphism & fragile X syndrome in the Indian context.
Complete report on H1 2015 pipeline review of Fragile X Syndrome with 28 market data tables and 15 figures, spread across 89 pages is available at http://www.
These results, published today in Nature Medicine, suggest that the prime cause of the Fragile X syndrome may be a translational imbalance that results in elevated protein production in the brain.
As the majority of patients with Fragile X Syndrome also display autism-like symptoms, the findings offer hope for treating both conditions.
Fragile X syndrome is one of many possible causes of intellectual disability (ID), also caused by atypical brain development.
The genetics of fragile X syndrome is complex, resulting from large expansions of a trinucleotide (3 base-pair) repeat within the FMRl gene on the X chromosome.
Speech and language development and intervention in Down syndrome and fragile X syndrome.
Fragile X syndrome is the most common inherited cause of mental retardation, with a frequency of 1 in 4000 males and 1 in 6000 females (1).