1 / 11

FRAGILE X SYNDROME

FRAGILE X SYNDROME. WHAT IS FRAGILE X SYNDROME?. The karyotype occurs in the X chromosome. People with fragile X syndrome have a “broken” X chromosome that appears to have a pre-split area. The chromosome is not actually broken but appears damaged and glued. Females can carry the

christopherwillis
Télécharger la présentation

FRAGILE X SYNDROME

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. FRAGILE X SYNDROME

  2. WHAT IS FRAGILE X SYNDROME? The karyotype occurs in the X chromosome. People with fragile X syndrome have a “broken” X chromosome that appears to have a pre-split area. The chromosome is not actually broken but appears damaged and glued. Females can carry the chromosome but will appear normal due to their second X chromosome. This disorder appears mostly in males. People who have this condition are mentally retarded, short, and have very large heads with-long and narrow faces. Some people have large and prominent ears and foreheads.

  3. HOW DOES FRAGILE X SYNDROME OCCUR? A change in a gene that is inherited at the time of conception. This gene, called the FMR1 gene is found on the X chromosome. When this gene change occurs the FMR1 gene does not work properly. The FMR1 gene is responsible for making a protein that is important in brain development. Therefore when the gene is not working properly brain function is affected.

  4. Can it be passed to future generations? Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition. In some families a number of family members appear to be affected, whereas in other families a newly diagnosed individual may be the first family member to exhibit symptoms. 

  5. HISTORY! • In 1943, Martin and Bell showed that a particular form of mental retardation (later known as fragile X syndrome) was X-linked. • In 1969, Herbert Lubs developed the chromosomal test for Fragile X and finds visual proof of the linkage of mental retardation and the X chromosome. • In 1991 the FMR1 gene that causes Fragile X was identified. 

  6. Type? Gene mutation Occurs due to an unstable gene that mutates frequently in human beings. The mutation involves multiple errors in the genetic code that make up the affected gene. Duplication Mutation Most people have 29 "repeats" at this end of their X-chromosome, those with Fragile X have over 700 repeats due to duplications.

  7. Diagnosis • Fragile X syndrome is diagnosed based upon developmental • delays, behavioral characteristics, and physical traits • Family history of mental retardation • Blood taken from a finger can be analyzed for the fragile X gene • Pregnant women-amniocentesis

  8. Treatment There is no cure for fragile X syndrome, but it can be treated through speech and language therapy, occupational therapy, physical therapy, and psychotherapy. Drugs may be used to treat behavioral problems, such as mood swings and aggressive outbursts. Children with fragile X syndrome usually follow a regular routine and avoiding over-stimulation and distractions.

  9. http://www.youtube.com/watch?v=-6-J_YcVRi4&feature=related

  10. Bibliography • http://www.hmc.psu.edu/childrens/healthinfo/f/fragilex.htm • www.marchofdimes.com. N.p., n.d. Web. 4 Nov. 2009.      <http://www.marchofdimes.com/pnhec/4439_9266.asp>. • http://www.nfxf.org. N.p., n.d. Web. 4 Nov. 2009. <http://www.nfxf.org/html/      cause.htm>. • http://www.hmc.psu.edu. N.p., n.d. Web. 4 Nov. 2009. <http://www.hmc.psu.edu/      childrens/healthinfo/f/fragilex.htm>. • fregilex. N.p., n.d. Web. 4 Nov. 2009. <http://www.fragilex.org/html/

More Related