1 / 10

Williams Syndrome

Williams Syndrome . Mary Bystrek. Williams Syndrome. Autosomal dominant disorder Occurs in approximately one of every 20,000 births Variability in expressivity. www.specialchild.com/ archives/dz-004.html. Overall Cause. Spontaneous deletion on chromosome band 7q11.23.

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.


Presentation Transcript

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

More Related