1. Williams Syndrome By Jennifer Hoban

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

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

4. Chromosome 7

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

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

7. Some examples:

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