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Fragile X

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.

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Fragile X

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  1. Fragile X Brianna Stobbe 3/6/13 Period 4

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

  3. 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

  4. Target Population • 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.

  5. CNS/PNS 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.

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

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

  8. Cure/Treatment • 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.

  9. Notable Cases/Supporters • 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.

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

  11. Works Cited 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

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