1. Williams Syndrome Mary Bystrek

2. Williams Syndrome Autosomal dominant disorder Occurs in approximately one of every 20,000 births Variability in expressivity www.specialchild.com/ archives/dz-004.html

3. Overall Cause Spontaneous deletion on chromosome band 7q11.23. Deletion removes more than 20 genes that encode for different functions. www.turkotek.com/ salon_00097/salon.html

4. Problems associated with WS Heart & Blood Vessel Defects  Supravalvular aortic stenosis  High blood pressure  Hypertension  Hypercalcemia www.aic.cuhk.edu.hk/ web8/Heart%20diagrams.htm

5. Problems associated with WS Vascular & Connective Tissue Deficiency  Gene that encodes for elastin is deleted Kidney Defects  Stenosis of the renal arteries Hernias  Groin & umbilical hernias are more frequent in WS patients.

6. Psychological Effects Mental Retardation Behavior Characteristics  “Cocktail Party” personality Memory loss Learning Disabilities Neurological Problems Auditory & Verbal  Sensitive hearing  Amazing musical abilities msnbc.msn.com/id/3069769/

7. Physical Characteristics Facial Characteristics Growth Voice Dental Abnormalities home.sc.rr.com/cmindel/

8. Diagnosis FISH (fluorescent in situ hybridization)  Most common method of testing for WS  Analyzes specialized chromosomes by using specially prepared elastin probes  The FISH test will show only one copy of the elastin gene in patients with WS.  Detects deletion of the gene more than 98% of the time

9. Treatment No actual cure Support groups, including the Williams Syndrome Association Therapies (music, horseback riding, etc.) Special teacher & parent info www.williams.ngo.hu/ udvozlet/zsofi.jpg

10. References 1. Bower, Bruce. (2004). A Very Spatial Brain Defect. Science News, Vol. 166, Iss. 11. 165 – 167. 2. Cagle et al. (2004). Severe Infantile hyperclacemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate. Pediatrics, Vol. 114 No. 4, 1091-1095. 3. Dhillon et al. (1998). Acquired coarctation of the aorta in Williams Syndrome. Heart, 80, 205-207. 4. Doyle et al. (2004). “Everybody in the world is my friend” hypersociability in young children with Williams syndrome. American Journal of Medical Genetics, 124 (3), 263-273. 5. Eronen et al. (2002). Cardiovascular manifestations in 75 patients with Williams syndrome. Journal of Medical Genetics, 39, 554-558. 6. Fanconi et al. (1952). Chronische Hypercalcaemie. Helv. Paediat. Acta, 7, 314- 334. 7. Kaplan et al. (1995). Cerebral artery stenoses in Williams syndrome cause strokes in childhood. Journal of Pediatrics., 126, 943 – 945. 8. Pasternak, J.J. An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases. 2 nd ed. New Jersey: Wisley, 2005. pp 543 – 545. 9. Williams Syndrome Association: http://www.williams-syndrome.orghttp://www.williams-syndrome.org