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Fragile x Syndrome

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Fragile X syndrome is caused by the expansion of the CGG trinucleotide repeat on the X chromosome, which results in failure to express the FMR1 protein needed for normal neural development. It is the most common inherited cause of intellectual disability and can also cause autism spectrum disorder. While there is no cure, treatment focuses on behavioral therapy and special education.

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Fragile X Syndrome
Fragile X SyndromeIs the expansion of a single trinucleotide gene sequence (CGG) on the X chromosome.This expansion results in a failure to express the protein coded by the FMR1 gene.The expression of this protein is required for normal neural development.
At full mutation, the CGG sequence can be repeated more than 200 times (29-31 is normal)
Because females have two X-Chromosomes, they are much more likely to develop Fragile X Syndrome than males (1 in 3600 for males, and 1 in 4000-6000 for females).
Fragile X Physical PhenotypeProminent earsElongated faceHyperextensible finger jointsDouble-Jointed thumbsFlat feetSoft skinLow muscle tone
Persons with Fragile X Syndrome are likely to produce intellectual disabilities.Children with Fragile X Syndrome have a learning rate with is 2.2 slower than children without the syndrome.
Fragile X and AutismAlthough Fragile X can cause a child to have Autism, not all children with Fragile X have Autism.Approximately 2%-6% of children diagnosed with Autism were found as having Fragile X as the cause, while approximately one third of children who have Fragile X show signs of autistic behavior.
Living with Fragile XPersons with Fragile X Syndrome do not have a lower life expectancy than those without.Social Anxiety is often related to Fragile X. Trouble forming relationships, avoiding eye contact, trouble reading facial coding, and hyperactivity are symptoms.
I cannot begin to imagine what living with Fragile X would be like, but I have lived with someone who had the syndrome. Living with someone who has Fragile X can require a complete change in lifestyle, but not always.
Fragile X InheritanceFragile X Syndrome is inherited in an X-linked dominant pattern (The mutated gene is on the X-Chromosome)Women with the premutation have an increased risk of passing it on to their children.
TreatmentsAs of yet, the only treatments that one can have for Fragile X are behavioral therapy and special education. There is no cure for Fragile X, but there is hope that as more is discovered about Fragile X, a cure might become possible.
Bibliography"Fragile X Syndrome."?Wikipedia, the Free Encyclopedia. Web. 22 May 2011. <http://en.wikipedia.org/wiki/Fragile_X_syndrome>."Fragile X Syndrome - Genetics Home Reference."?Genetics Home Reference - Your Guide to Understanding Genetic Conditions. 15 May 2011. Web. 22 May 2011. <http://ghr.nlm.nih.gov/condition/fragile-x-syndrome>.

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Fragile x Syndrome

  • 2. Fragile X SyndromeIs the expansion of a single trinucleotide gene sequence (CGG) on the X chromosome.This expansion results in a failure to express the protein coded by the FMR1 gene.The expression of this protein is required for normal neural development.
  • 3. At full mutation, the CGG sequence can be repeated more than 200 times (29-31 is normal)
  • 4. Because females have two X-Chromosomes, they are much more likely to develop Fragile X Syndrome than males (1 in 3600 for males, and 1 in 4000-6000 for females).
  • 5. Fragile X Physical PhenotypeProminent earsElongated faceHyperextensible finger jointsDouble-Jointed thumbsFlat feetSoft skinLow muscle tone
  • 6. Persons with Fragile X Syndrome are likely to produce intellectual disabilities.Children with Fragile X Syndrome have a learning rate with is 2.2 slower than children without the syndrome.
  • 7. Fragile X and AutismAlthough Fragile X can cause a child to have Autism, not all children with Fragile X have Autism.Approximately 2%-6% of children diagnosed with Autism were found as having Fragile X as the cause, while approximately one third of children who have Fragile X show signs of autistic behavior.
  • 8. Living with Fragile XPersons with Fragile X Syndrome do not have a lower life expectancy than those without.Social Anxiety is often related to Fragile X. Trouble forming relationships, avoiding eye contact, trouble reading facial coding, and hyperactivity are symptoms.
  • 9. I cannot begin to imagine what living with Fragile X would be like, but I have lived with someone who had the syndrome. Living with someone who has Fragile X can require a complete change in lifestyle, but not always.
  • 10. Fragile X InheritanceFragile X Syndrome is inherited in an X-linked dominant pattern (The mutated gene is on the X-Chromosome)Women with the premutation have an increased risk of passing it on to their children.
  • 11. TreatmentsAs of yet, the only treatments that one can have for Fragile X are behavioral therapy and special education. There is no cure for Fragile X, but there is hope that as more is discovered about Fragile X, a cure might become possible.
  • 12. Bibliography"Fragile X Syndrome."?Wikipedia, the Free Encyclopedia. Web. 22 May 2011. <http://en.wikipedia.org/wiki/Fragile_X_syndrome>."Fragile X Syndrome - Genetics Home Reference."?Genetics Home Reference - Your Guide to Understanding Genetic Conditions. 15 May 2011. Web. 22 May 2011. <http://ghr.nlm.nih.gov/condition/fragile-x-syndrome>.