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 ?
Randi Hagerman has received funding from Alcobra, Neuren, Novartis, Roche and Marinus regarding treatment studies in fragile X syndrome.
A review of the Fragile X Syndrome products under development by companies and universities/research institutes based on information derived from company and industry-specific sources
Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome.
What we hope is to one day increase the ability of people with fragile X syndrome to socialize and engage in normal cognitive functions," said Piomelli, a UCI professor of anatomy and neurobiology and the Louise Turner Arnold Chair in the Neurosciences.
The condition can be severely debilitating and this medication has the potential to play a much needed role in improving the core symptoms of fragile X syndrome and helping patients and their families achieve an improved quality of life," said Dr.
Most physicians are aware that Fragile X syndrome is one of the more common causes of male mental retardation but likely don't expect to encounter it in a practice comprising primarily adults with normal intelligence.
At the 2010 ACMG meeting, a presentation revealed that the carrier frequency for Fragile X syndrome is one in 236 women in the general U.
Fragile X syndrome (FRAXA) (MIM 309550) is the most common cause of monogenic X-linked mental retardation (XLMR) with a worldwide prevalence of nearly 1 in 4000 males and 1 in 8000 females (1).
The National Institutes of Health has developed a research plan to advance the understanding of fragile X syndrome and its associated conditions, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.
The sixth edition adds seven chapters on autism, spectrum disorders, obesity, Down syndrome, fragile X syndrome, myringotomy, Turner syndrome, and diabetes type 2.