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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.
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. NICHD supports and conducts research on the diagnosis, treatment, management, prevention, and inheritance of Fragile X and its associated conditions, Fragile X ...
Fragile X results from a change or mutation in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, which is found on the X chromosome. The gene normally makes a protein, called FMRP, that is important for creating and maintaining connections between cells in the brain and nervous system.
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. Fragile X Syndrome | NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human Development
FXTAS is a late-onset condition (occurs in people older than age 50) that develops in some men and women with an altered form of the Fragile X gene. Those with FXTAS do not have the intellectual or developmental disabilities common in Fragile X syndrome.
Fragile X syndrome is the most common form of inherited intellectual and developmental disability (IDD). People with Fragile X syndrome may not have noticeable symptoms, or they can have more serious symptoms that range from learning disabilities to cognitive and behavior problems.
This study has the potential to distinguish specific behavioral, genetic, and neurobiological features that characterize infants with Fragile X syndrome as compared to infants at risk for autism without Fragile X syndrome and to those with typical development. 5. The Role of Maternal Autoimmune Disease in Fragile X Syndrome
People who have what's called a full mutation in the FMR1 gene (instead of the premutation) are likely to have Fragile X syndrome, the most common inherited form of intellectual and developmental disabilities (IDDs). People with the premutation usually do not have IDDs, but they may have some learning disabilities.
If a healthcare provider suspects the child has Fragile X syndrome, he/she can refer parents to a clinical geneticist, who can perform a genetic test for Fragile X syndrome. 2 Citations National Fragile X Foundation.
This website is maintained by a community of Fragile X families and researchers; it provides information about Fragile X syndrome. Information is also collected for periodic surveys. Please note: Links to organizations and information included on this page do not indicate endorsement from NICHD, NIH, or HHS.