Fragile X syndrome

Definition

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

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.

Symptoms

• Family history of Fragile X syndrome, especially a male relative
• Mental retardation
• Large testicles (macro-orchidism) after puberty
• Large body size
• Tendency to avoid eye contact
• Hyperactive behavior
• Large forehead or ears with a prominent jaw

Family members who have fewer repeats in the FMR1 gene may not have mental retardation, but may have other problems. Women with less severe changes may have premature menopause or difficulty becoming pregnant. Both men and women may have problems with tremors and poor coordination.

Signs and tests

A specific genetic test (PCR) can now be performed to diagnose this disease. This test looks for an expanded mutation (called a triplet repeat) in the FMR1 gene. Formerly, a specific type of chromosome analysis was done and this may still be available.

There are very few outward signs of Fragile X syndrome in babies, but one is a tendency to have large head circumference. Measurement of oversized testes in males who have reached puberty may also suggest the diagnosis. An experienced geneticist may note subtle differences in facial characteristics. Mental retardation is the hallmark of this condition and, in females, this may be the only sign of the problem.

Treatment

There is no specific treatment for Fragile X syndrome. Instead, effort is directed toward training and education so that affected children can function at as high a level as is possible. Because the condition is not rare, specific educational approaches have been developed and tested.

Support Groups

National Fragile X Foundation -- www.nfxf.org

Expectations (prognosis)

The outcome depends on the extent of mental retardation.

Complications

Complications vary depending on the type and severity of symptoms.

Calling your health care provider

Call your health care provider if you suspect the possibility of Fragile X syndrome in a child with mental retardation.

Prevention

Genetic counseling may help prospective parents with a family history of Fragile X syndrome. Genetic testing can help determine the level of risk in such a family. Accurate diagnosis is important because of the possibility of other family members inheriting either Fragile X syndrome or other problems related to an increased number of repeats in FMR1.

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Martin-Bell syndrome; Marker X syndrome ; syndrome martin bell