FRAGILE X SYNDROME

WHAT IS FRAGILE X SYNDROME? The karyotype occurs in the X chromosome. People with fragile X syndrome have a “broken” X chromosome that appears to have a pre-split area. The chromosome is not actually broken but appears damaged and glued. Females can carry the chromosome but will appear normal due to their second X chromosome. This disorder appears mostly in males. People who have this condition are mentally retarded, short, and have very large heads with-long and narrow faces. Some people have large and prominent ears and foreheads.

A change in a gene that is inherited at the time of conception. This gene, called the FMR1 gene is found on the X chromosome. When this gene change occurs the FMR1 gene does not work properly. The FMR1 gene is responsible for making a protein that is important in brain development. Therefore when the gene is not working properly brain function is affected. HOW DOES FRAGILE X SYNDROME OCCUR?

Can it be passed to future generations? Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition. In some families a number of family members appear to be affected, whereas in other families a newly diagnosed individual may be the first family member to exhibit symptoms.

HISTORY! In 1943, Martin and Bell showed that a particular form of mental retardation (later known as fragile X syndrome) was X-linked. In 1969, Herbert Lubs developed the chromosomal test for Fragile X and finds visual proof of the linkage of mental retardation and the X chromosome. In 1991 the FMR1 gene that causes Fragile X was identified.

Type? Duplication Mutation Most people have 29 "repeats" at this end of their X-chromosome, those with Fragile X have over 700 repeats due to duplications. Gene mutation Occurs due to an unstable gene that mutates frequently in human beings. The mutation involves multiple errors in the genetic code that make up the affected gene.

Diagnosis Fragile X syndrome is diagnosed based upon developmental delays, behavioral characteristics, and physical traits Family history of mental retardation Blood taken from a finger can be analyzed for the fragile X gene Pregnant women-amniocentesis

Treatment There is no cure for fragile X syndrome, but it can be treated through speech and language therapy, occupational therapy, physical therapy, and psychotherapy. Drugs may be used to treat behavioral problems, such as mood swings and aggressive outbursts. Children with fragile X syndrome usually follow a regular routine and avoiding over-stimulation and distractions.

Bibliography N.p., n.d. Web. 4 Nov N.p., n.d. Web. 4 Nov N.p., n.d. Web. 4 Nov fregilex. N.p., n.d. Web. 4 Nov <