1 / 12

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.

ursula
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 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

More Related