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Fragile X Syndrome

Fragile X Syndrome. Presented by Ray Utt. Scenarios. “X-linked” disorder. Females-premutation or full mutation. Premutation- 50% chance of of heretity. Full mutation- Full chance of heretity. Males-premutation. Pass only to daughters. Karyotype. Inheritance. Duplication.

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Fragile X Syndrome

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  1. Fragile X Syndrome Presented by Ray Utt

  2. Scenarios • “X-linked” disorder. • Females-premutation or full mutation. • Premutation- 50% chance of of heretity. • Full mutation- Full chance of heretity. • Males-premutation. • Pass only to daughters.

  3. Karyotype

  4. Inheritance • Duplication

  5. Physical Features • Some features include: • Prominent ears • Large head • Prominent forehead • Flexible finger joints • Flat feet • High palate

  6. Diagnosis • 2 types of tests • Chromosome testing • Blood testing (which is more accurate)

  7. Treatments • Early interventions before school years • Physical, occupational, speech and language therapy • Special Ed. • Medications

  8. Life Expectancy • Not affected

  9. Cure Possibility • Not likely

  10. Cites • http://www.fragilex.org/html/summary.htm • http://home.coqui.net/myrna/fragile.htm • http://www.med.umich.edu/1libr/yourchild/fragilex.htm • http://www.krepublishers.com/02-Journals/IJHG/IJHG-01-0-000-000-2001-Web/IJHG-01-2-077-163-2001-Abst-PDF/IJHG-01-2-091-095-2001-Chetan/IJHG-01-2-091-095-2001-Chetan.pdf

  11. More Cites • http://www.fragilex.org.au/ • http://www.nichd.nih.gov/publications/health.cfm

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