Difference between revisions of "2011 Group Project 9"

From Embryology
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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]
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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. <ref>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</ref> <ref>http://omim.org/entry/194050</ref>
  
 
This multisystemic developmental genetic disorder implicates both pre-natal and post-natal physical, psychological, behavioural and medical defects, including diverse phenotypic characteristics such as:  
 
This multisystemic developmental genetic disorder implicates both pre-natal and post-natal physical, psychological, behavioural and medical defects, including diverse phenotypic characteristics such as:  
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*cardiovascular abnormalities
 
*cardiovascular abnormalities
 
*infantile hypercalcemia
 
*infantile hypercalcemia
*a unique personality and cognitive profile. [1],[3]
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*a unique personality and cognitive profile. <ref>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</ref> <ref>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</ref>
  
 
==History of the disease==
 
==History of the disease==
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==References==
 
==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
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<references/>
# 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
 

Revision as of 16:09, 27 August 2011

Note - This page is an undergraduate science embryology student group project 2011.
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




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. [3] [4]

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

  1. 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
  2. http://omim.org/entry/194050
  3. 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
  4. 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