Fragile X. Brianna Stobbe 3/6/13 Period 4. Name. Common and scientific name: fragile X syndrome (FXS) Other names: Martin-Bell syndrome,Marker X syndrome, FRAXA syndrome. Cause. Inherited, but not expressed in every generation.
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
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.
Genetic test for mutation or premutation
Chorionic villus sampling
percutaneous umbilical blood sampling
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 http://ic.galegroup.com/ic/suic/ReferenceDetailsPage/ReferenceDetailsWindow?query=&prodId=SUIC&displayGroupName=Reference&limiter=&source=&disableHighlighting=false&displayGroups=&sortBy=&search_within_results=&action=2&catId=&activityType=&documentId=GALE%7CCV2191501165&userGroupName=cary81451&jsid=5136b759afdd4ff30ffe0f0d2cbb26e8
Quercia, N. (2005). Fragile X Syndrome. In B. Narins (Ed.), The Gale Encyclopedia of Genetic Disorders (2nd ed., Vol. 1, pp. 472-475). Detroit: Gale. Retrieved from http://go.galegroup.com/ps/i.do?id=GALE%7CCX3451500155&v=2.1&u=cary81451&it=r&p=GPS&sw=w