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Fragile X syndrome
|Fragile X syndrome|
|Classification and external resources|
Location of FMR1 gene
Fragile X syndrome (FXS) is a genetic syndrome that causes a range of intellectual disabilities as well as unusual physical and behavioural characteristics. It is one of the most common causes of autism and mental retardation among boys. Basically, these individuals lack an important gene product.
In unaffected individuals, the FMR1 gene contains 5–44 repeats of the CGG codon, most commonly 29 or 30 repeats. Between 45 and 54 repeats is considered a "grey zone". Between 55 and 200 repeats in length is described as a premutation allele. Individuals with fragile X syndrome have a full mutation of the FMR1 allele, with over 200 repeats of the CGG codon.
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- Santoro M.R. et al 2012. Molecular mechanisms of Fragile X Syndrome: a twenty-year perspective. Annu. Rev. Pathol. Mech. Dis. 7: 219–45. 
- Maddalena A. et al 2001.. "Technical Standards and Guidelines for Fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics". Genetics in Medicine 3 (3): 200–205. . . .
- Nolin S.L. et al 2003. "Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles". American Journal of Human Genetics 72 (2): 454–64. . . . http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)60554-0.