1 / 8

Williams Syndrome

Williams Syndrome. By Jennifer Hoban. Symptoms. Slight facial abnormalities such as small upturned nose, puffiness around the eyes Heart and blood vessel problems including narrowing of vessels and aorta Hypercalcemia - Evaluated blood calcium

kyliet
Download Presentation

Williams 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. Williams Syndrome By Jennifer Hoban

  2. Symptoms • Slight facial abnormalities such as small upturned nose, puffiness around the eyes • Heart and blood vessel problems including narrowing of vessels and aorta • Hypercalcemia - Evaluated blood calcium • Low birth weight, feeding problems, prone to colic • Dental and kidney abnormalities, hernias, hearing sensitivity, musculoskeletal problems • Overly friendly but has learning disabilities and usually are mildly retarded

  3. Testing • FISH test - fluorescence in situ hybridization ($250) • Blood Sample is taken • Treated with two fluorescence dyes • Chromosome 7 is checked for the dye • If found then in one not two then has syndrome and is missing the elastin gene • In found in both then normal

  4. Chromosome 7

  5. Background • 1 out of 20,000 children born • There are 15 genes missing • Elastin was the first discovered • Elastin gives the body elasticity • Found in arteries, lungs, skin and connective tissues • Therefore effects heart, lungs, and muscle tissues

  6. Continued • LIM-kinase1 – second gene found on Chromosome 7 • Responsible for 3D thinking skills • Found on the long arm 7q.11.23 • Spans 1.5 megabases • Syndrome first diagnosised in the 1960’s

  7. Some examples:

  8. References • Www.williams-syndrome.org • http://www.wsf.org/ • Schultz, Roberts. Genetics of Childhood disorders:XXVI Williams Syndrome and Brain Behavior Relationships. J. Of Amer. Academy of Child and Adolescent Psychiatry, May 2001. • Siegel, Lee. Utah Scientists link Genes to Ability to Think Straight. Salt Lake City Tribune. 12 July, 1996

More Related