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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

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Williams Syndrome

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  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

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