Fragile X Syndrome Underlying Cause
A person with fragile X syndrome has a defective gene located on the X chromosome. The defective gene prohibits normal development of the brain. Specifically, the gene that is defective normally codes for the production of a protein called fragile X mental retardation protein or FMRP.
Since females have two x chromosomes (males only have one), females with this disorder have milder symptoms and fewer of the physical features associated with the disorder.
Continue to Fragile X Syndrome Genetics
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- Wattendorf DJ, Muenke M. Diagnosis and management of fragile X syndrome. Am Fam Physician. 2005 Jul 1;72(1):111-3.