Fragile X syndrome


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Definition

Fragile X syndrome is a genetic condition involving changes in the long arm of the X chromosome. It is characterized by mental retardation.


Alternative Names

Martin-Bell syndrome; Marker X syndrome


Causes, incidence, and risk factors

Fragile X syndrome is the most common form of inherited mental retardation in males and a significant cause in females. The inheritance is different from common dominant or recessive inheritance patterns. A fragile area on the X chromosome (called FMR1) has repeats in the genetic code. The more repeats, the more likely there is to be a problem. Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely.



Review Date: 04/30/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.


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