Williams Syndrome Mary Bystrek

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

Overall Cause Spontaneous deletion on chromosome band 7q Deletion removes more than 20 genes that encode for different functions. salon_00097/salon.html

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

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.

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/ /

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

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

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

References 1. Bower, Bruce. (2004). A Very Spatial Brain Defect. Science News, Vol. 166, Iss – Cagle et al. (2004). Severe Infantile hyperclacemia Associated With Williams Syndrome Successfully Treated With Intravenously Administered Pamidronate. Pediatrics, Vol. 114 No. 4, Dhillon et al. (1998). Acquired coarctation of the aorta in Williams Syndrome. Heart, 80, 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), Eronen et al. (2002). Cardiovascular manifestations in 75 patients with Williams syndrome. Journal of Medical Genetics, 39, Fanconi et al. (1952). Chronische Hypercalcaemie. Helv. Paediat. Acta, 7, Kaplan et al. (1995). Cerebral artery stenoses in Williams syndrome cause strokes in childhood. Journal of Pediatrics., 126, 943 – Pasternak, J.J. An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases. 2 nd ed. New Jersey: Wisley, pp 543 – Williams Syndrome Association: