Journal of Pharmaceutical Sciences and Drug Development

Fragile X Syndrome

Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males is under 55, while about two thirds of females are intellectually disabled. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. A genetic condition causing intellectual disability. Fragile X syndrome causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms. Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet. Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders. Fragile X is caused by a mutation in the FMR1 gene that prevents the body from making an important protein, called FMRP. ... The FMR1 gene is found on the X chromosome, which means that females (who have two X chromosomes) have two copies of the FMR1 gene, and males (who have one X chromosome) have only one.How is fragile X syndrome diagnosed? ... FXS can be diagnosed using a DNA blood test called the FMR1 DNA test. The test looks for changes in the FMR1 gene that are associated with FXS. Depending on the results, your doctor may choose to do additional testing to determine the severity of the condition.

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