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The genetic disorder fragile x syndrome, which results from mutations in a gene on the x chromosome, is the most commonly inherited form of developmental and intellectual disability.

People with fragile x have some symptoms in common, including intellectual problems, physical features unique to this syndrome, behavioral challenges, speech and language problems, and sensory issues. Fragile x results from a change or mutation in the fragile x mental retardation 1 (fmr1) gene, which is found on the x chromosome. Fxtas is a condition that develops in some men and women who have a change or mutation in a gene called the fragile x messenger ribonucleoprotein 1 (fmr1) gene This gene is found on the x chromosome.

Those with fxtas do not have the intellectual or developmental disabilities common in fragile x syndrome. Find answers to other common questions about fragile x syndrome, such as conditions associated with fragile x syndrome, how it is inherited, and how the genetic mutation occurs. Nichd conducts and supports research on fragile x syndrome and on many disorders associated with fragile x syndrome. Individuals with fragile x who receive appropriate education, therapy services, and medications have the best chance of using all of their individual capabilities and skills.

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Healthcare providers often use a blood sample to diagnose fragile x

They will take a sample of blood and will send it to a laboratory, which will determine what form of the fmr1 gene is present.

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