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Fragile X syndrome

• Overview
• Symptoms
• Treatment
• Prevention

Definition:

Fragile X syndrome is a genetic condition involving changes in part of the X chromosome . It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females.

Alternative Names:

Martin-Bell syndrome; Marker X syndrome

Causes, incidence, and risk factors:

Fragile X syndrome is caused by a change in the FMR1 gene. The gene's code is repeated on a fragile area of the X chromosome. The more repeats, the more likely there is to be a problem.

Normally, the FMR1 gene makes a protein you need for for your brain to grow properly. A defect in this gene makes your body produce too little of the protein, or none at all.

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. You can have Fragile X syndrome even if your parents do not have it.

• Review Date: 6/24/2007
• Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospitalof Philadelphia, Philadelphia, PA. Review provided by VeriMed HealthcareNetwork.

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