LYCOS RETRIEVER 
Fragile X Syndrome: Individuals
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[One] feature of fragile X syndrome is that mosaicism is present in 15 to 20 percent of those affected by the condition. Mosaicism refers to the presence of cells of two different genetic materials in the same individual.
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The effects of Fragile X on an individual's mental status are partially related to the environment in which the individuals grows up, what educational and therapeutic opportunities are available, and how early those interventions are begun. The cognitive and neuropsychological symptoms include:
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The function of the fragile X gene is to produce a protein (called FMRP) that is important in the development and functioning of the brain. No protein is produced in individuals with the full mutation. Those who have the pre-mutation are carriers for this condition and generally do not show symptoms of the disorder.
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If the etiology of mental impairment is not known, Fragile X testing is usually offered as a combination test along with a routine karyotype in the Cytogenetics Laboratory. Cytogenetic studies are critical since constitutional abnormalities have been identified as frequently or more frequently than fragile X mutations in mentally retarded individuals referred for fragile X testing.
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