2011 Group Project 9: Difference between revisions
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==Introduction== | ==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== | ==History of the disease== | ||
Revision as of 15:54, 27 August 2011
| Note - This page is an undergraduate science embryology student group project 2011. |
Your Project Goes Here.
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]
