Fragile X Brianna Stobbe 3/6/13 Period 4

Common and scientific name: fragile X syndrome (FXS) Other names: Martin-Bell syndrome,Marker X syndrome, FRAXA syndrome Name

Cause Inherited, but not expressed in every generation. Premutation: repetition of CCG sequence in DNA of X chromosome more than 50 times. Does not cause syndrome, but may cause it in children. Full mutation: repetition of CCG sequence more than 230 times, which disables the FMR-1(fragile X mental retardation) gene and causes syndrome

Every ethnicity 1 in 1,250 males 1 in 2,000 females Males have one X chromosome, while females have two. Females are less likely to have the syndrome because the FMR-1 gene is active on the other chromosome. Symptoms of females are generally mild. Target Population

The FMR-1 gene codes for a protein that helps develop synapses, the connections between nerve cells. When the the FMR-1 gene is disabled, neurotransmitters are not relayed correctly. CNS/PNS

developmental delays mental retardation autism attention deficit disorder (ADD) digestive disorders heart conditions seizures large ears long, narrow face Symptoms

Genetic test for mutation or premutation Amniocentesis Chorionic villus sampling percutaneous umbilical blood sampling Prognosis

No present cure. Gene therapy may be an option in the future. Drugs can treat ADD and seizures. Speech and language therapy and special education teachers may be needed. Cure/Treatment

Albert Einstein had Asperger syndrome, a type of autism, that was likely caused by fragile X. James Denton from Desperate Housewives has been a supporter of the cause. Notable Cases/Supporters

Organizations National Fragile X Foundation and FRAXA Research Foundation fund scientific research, support families affected, and raise awareness.

Sex chromosome abnormalities. (2007). In World of Health. Gale. Retrieved from Name=Reference&limiter=&source=&disableHighlighting=false&displayGroups=&sortBy=&search_within_results=&ac tion=2&catId=&activityType=&documentId=GALE%7CCV &userGroupName=cary81451&jsid=5136b759af dd4ff30ffe0f0d2cbb26e8 Quercia, N. (2005). Fragile X Syndrome. In B. Narins (Ed.), The Gale Encyclopedia of Genetic Disorders (2nd ed., Vol. 1, pp ). Detroit: Gale. Retrieved from Works Cited