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Characteristics of Fragile X Syndrome

Fragile X syndrome affects individuals in a wide variety of ways. Some individuals experience significant challenges because of the effects of fragile X, while the impact on others is so minor that they will never be diagnosed. 

Males and females exhibit quite different physical, cognitive, behavioral, sensory, speech and language impacts of fragile X syndrome. In general, females with fragile X either do not have the characteristics seen in males, or the characteristics show up in a milder form.

The difference is probably due to the fact that females have two X chromosomes instead of the one that males carry.  As a result, females who have fragile X, have two sets of instructions for making FMRP (fragile X mental retardation protein), one that works and one that doesn't. Males with fragile X have only one X chromosome with its nonfunctioning FMR1 (fragile X mental retardation 1) gene. It appears that females are able to produce enough of the FMRP to fill most of the body's needs, but not all.

 

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