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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

Fragile X

Brianna Stobbe

3/6/13

Period 4

slide2
Name
  • Common and scientific name: fragile X syndrome (FXS)
  • Other names: Martin-Bell syndrome,Marker X syndrome, FRAXA syndrome
cause
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

target population
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.
cns pns
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.

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

Genetic test for mutation or premutation

Amniocentesis

Chorionic villus sampling

percutaneous umbilical blood sampling

cure treatment
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.
notable cases supporters
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.
organizations
Organizations

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

works cited
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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