The most common form of inherited intellectual disability, caused by an abnormality of the x chromosome. The connection between the tip of the long arm of the abnormal chromosome and the rest of the chromosome is very slender and is easily broken, hence the term fragile x.
Clinical manifestations of fragile x syndrome include moderate to severe intellectual disability and a large head, long face, prominent ears, and, in affected males, large testicles. Some subjects with the abnormal gene are of normal intelligence but show one or more forms of learning disability. Many also have attention-deficit/hyperactivity disorder (ADHD).
A hereditary condition in which part of an X chromosome is constricted, causing mental impairment.
Fragile X syndrome (FXS), a genetic disorder, involves a mutation of the FMR1 gene (fragile X mental retardation 1 gene), located at the bottom end of the X chromosome. A mutation in this gene lowers the production of the FMR protein. Variations in the amount of the FMR protein account for the wide range of behavioral and physical features displayed by persons with FXS. This sex-linked condition affects males more than females, because males only have one X chromosome, whereas females, with two X chromosomes, will generally have one chromosome with-out the mutation. FXS is the most common cause of inherited mental retardation and accounts for 30% of cases of mental retardation associated with the X chromosome.
A disorder caused by extra genetic fragments on the X chromosome, resulting in mental retardation, distinctive facial deformity, and macro-orchidism.
An inherited genetic condition that is a leading cause of mental retardation. Fragile X syndrome results from an altered gene on the long arm of the X chromosome. Mothers are carriers of the condition, and their sons are at risk of being affected with the disorder, while their daughters are at risk for being carriers and are usually only mildly affected intellectually. A male with fragile X syndrome inherits it from his mother, who has a 50 percent chance of passing it on to her baby, since she has two X chromosomes.
A chromosomal disease, often associated with mental retardation, in which the tip of the long arm of the X chromosome can separate from the rest of the genetic material. Most males and 30% of females with this syndrome are mentally retarded. Males also develop greatly enlarged testicles (macro-orchidism), enlarged ears, and a prominent jaw.
A hereditary condition associated with the X chromosome, which impacts the cognitive, physical, and sensory development of individuals.
Fragile X syndrome is a genetic disorder that’s passed down through families and primarily impacts learning abilities. This condition is unusual because it follows an X-linked recessive inheritance pattern, typically seen on the X chromosome. While it’s predominantly found in males, females can also be affected by this disorder. Interestingly, both men and women can be carriers of the disorder without displaying any symptoms themselves.
People who are affected by this condition may experience learning difficulties, along with distinctive facial features such as a prominent nose and jaw, and increased ear length. They are also more susceptible to epileptic seizures and behavioral challenges. Males with this condition often have enlarged testes. Additionally, some carriers of the condition may also exhibit intellectual impairments.
There is no cure for this condition, but children affected by it can find assistance through speech therapy, specialized education, and support from a psychologist to address any behavioral issues. Life expectancy for individuals with this condition is normal, but affected boys often require lifelong care. Couples with a family history of fragile X syndrome may consider seeking genetic counseling before planning to have a child.