Monday, May 4, 2009

Fragile X

Fragile X syndrome is a genetic disorder that was first discovered by Martin and Bell in 1943. A patient with this disease may suffer from mental retardation , intellectual disability, elongate face, and large eyes. Some symptoms for this disease may be large ears, limited eye contact, shyness and stereotypical movements. There are treatments for this disease, like behavioral therapy, special education, and medication. Fragile X syndrome is a disease that does not shorten a person's lifespan, the person with the disease will live as long as any other human. At least 17,000 people in the United States have Fragile X syndrome, 1 in 3600 to 4000 males in the world are born with the full mutation for Fragile X and 1 in 4000 to 6000 females in the world are born with the full mutation for Fragile X. So, males are more vulnerable to this disease. The person who has fragile X syndrome has a mutation in the FMR1 (Fragile X mental retardation 1), a protein in the DNA that makes X chromosomes.

Click here to see more information about Fragile X Syndrome!