2011 Group Project 9
From Embryology
| Note - This page is an undergraduate science embryology student group project 2011. |
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2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip
Williams-Beuren Syndrome
Introduction
Williams-Beuren Syndrome, more commonly known as William’s Syndrome, is a congenital anomaly caused by the deletion of 28 neighbouring genes on chromosome 7q11.23. [1],[2]
This multisystemic developmental genetic disorder implicates both pre-natal and post-natal physical, psychological, behavioural and medical defects, including diverse phenotypic characteristics such as:
- distinctive facial deformities
- a short stature
- intellectual disabilities/mental retardation
- cardiovascular abnormalities
- infantile hypercalcemia
- a unique personality and cognitive profile. [1],[3]
History of the disease
Etiology
Diagnosis
Genetic Factors
Physical Characteristics
Associated medical conditions
Cognitive, Behavioural and Neurological Problems
Epidemiology
Management/treatment
Specialized Facilities/ supportive associations
Case studies
Interesting facts
Current research and developments
Glossary
References
- Morris CA (2010). ‘Introduction: Williams Syndrome’. American Journal of Medical Genetics. Part C, Seminars in medical genetics, Volume 154C, Issue 2, pp 203-208 PMID 20425781
- http://omim.org/entry/194050
- Ferrero GB et al. (2010). ‘An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient’. European Journal of Human Genetics, Volume 18, Issue 1, pp 33-38 PMID 19568270
