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Fragile X Syndrome
Transcript of Fragile X Syndrome
•Hyperactive or impulsive behavior
•Shyness Cause Genetic disorder from mutation on the X chromosome
CGG repeats in the FMR1 (fragile X mental retardation 1) Gene Support Groups National Fragile X Foundation Prognosis Interesting Facts Ryan Lim and Miriam Chen
Period 2 Physical symptoms:
•Large body size
•Large forehead or ears with a prominent jaw 1 2 3 4 Males generally have more severe
symptoms than females Normal: < 45
Premutation: 45 - 200
Affected: > 200 Considered an X-linked dominant condition but does not follow the usual pattern of X-linked dominant inheritance 1 in every 3600 males 1. Fragile X Syndrome. Digital image. Wikipedia. Wikimedia Commons, 15 June 2013. Web. 26 Feb. 2013. <http://upload.wikimedia.org/wikipedia/commons/thumb/b/b3/Fragile_x_syndrom.png/220px-Fragile_x_syndrom.png>. 2.Percentage of Children with FXS Diagnosed or Treated for Other Conditions. Digital image. CDC. N.p., n.d. Web. 26 Feb. 2013. <http://www.cdc.gov/ncbddd/fxs/images/OtherConditionsChart.jpg>. FRAXA Reseach Foundation History 1970 - Frederick Hecht coined the term "fragile site" 1943 - James Purdon Martin and Julia Bell showed that a particular form of mental retardation was X-linked. 1991 - the FMR1 gene that causes Fragile X was identified 1969 - Herbert Lubs developed the chromosomal test 5 6 1 in 151 females and 1 in 468 males possibly have a premutation Women with a premutation have a 30-40% chance of giving birth to an affected male child and a 15-20% chance of giving birth to an affected female child 3. Fragile X Syndrome Graphic. Digital image. Blogspot. Blogspot, 17 Mar. 2012. Web. 26 Feb. 2013. <http://bio3400.nicerweb.net/Locked/media/ch08/08_26-fragile_X_syndrome.jpg>. 4. Fragile X Syndrome. Digital image. Wikispaces. Wikispaces, n.d. Web. 26 Feb. 2013. <http://scfscience8.wikispaces.com/file/view/FragileX.jpg/123072729/FragileX.jpg>. 7 8 9 5. National Fragile X Foundation. Digital image. FragileX.org. NFXF, n.d. Web. 26 Feb. 2013. <http://www.fragilex.org/wp-content/uploads/2011/10/NFXF-1-1024x512.png>. 6. FRAXA Logo. Digital image. FRAXA.org. FRAXA, n.d. Web. 26 Feb. 2013. <http://www.fraxa.org/images/FRAXA-logo.gif>. 9. "Fragile X Syndrome - Data & Statistics." Centers for Disease Control and Prevention. N.p., 31 July 2012. Web. 26 Feb. 2013. <http://www.cdc.gov/ncbddd/fxs/data.html>. 7. James Purdon Martin. Digital image. Images from the History of Medicine. N.p., n.d. Web. 26 Feb. 2013. <http://ihm2.nlm.nih.gov/MediaManager/srvr?mediafile=/Size3/D1019/b019060.jpg&userid=3&username=nlmadmin&resolution=3&servertype=JVA&cid=1&iid=NLMNLM&vcid=NA&usergroup=Images_from_the_History_of_Medicine-1-Admin&profileid=1>. 8. A Child with Fragile X Syndrome. Digital image. Genetics Utah. N.p., n.d. Web. 26 Feb. 2013. <http://medgen.genetics.utah.edu/photographs/diseases/thumbnails/514a_small.gif>. 10 10. Board, A.D.A.M. Editorial. "Fragile X Syndrome." PubMed Health. U.S. National Library of Medicine, 18 Nov. 2012. Web. 27 Feb. 2013. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633/>.