Talk:2011 Group Project 9

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Revision as of 00:02, 10 August 2011 by Z3332183 (talk | contribs)

Group 9: User:z3331469 | User:z3331556 | User:z3332178 | User:z3332183


--Mark Hill 07:35, 30 September 2011 (EST) Currently all students originally assigned to each group are listed as equal authors/contributors to their project. If you have not contributed the content you had originally agreed to, nor participated in the group work process, then you should contact the course coordinator immediately and either discuss your contribution or request removal from the group author list. Remember that all student online contributions are recorded by date, time and the actual contributed content. A similar email reminder will be sent to all current students.

Please note the Universities Policy regarding Plagiarism

In particular this example:

"Claiming credit for a proportion of work contributed to a group assessment item that is greater than that actually contributed;"

Academic Misconduct carries penalties. If a student is found guilty of academic misconduct, the penalties include warnings, remedial educative action, being failed in an assignment or excluded from the University for two years.

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

“The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment” by Colleen A. Morris The review article concludes that a person with William syndrome share distinct cognitive and behavioural features. The phenotype of a typical patient will be due to the deleted genes of chromosome 7 q11.23.[1]

“Impaired geometric reorientation caused by genetic defect” by Laura Lakusta, Banchiamlack Dessalegn, and Barbara Landau By testing participants in a plain or single blue walled chamber, the study was able to show that William syndrome patients show a failure to reconstruct and use geometric representations of the chamber o find hidden objecs.[2] --z3332178 22:42, 9 August 2011 (EST) --z3331469 13:19, 4 August 2011 (EST)

The genomic basis of the Williams - Beuren syndrome C Schubert. Cellular and Molecular Life Sciences. Basel: Apr 2009. Vol. 66, Iss. 7; p. 1178 [3]

--Z3332183 13:28, 4 August 2011 (EST)

J Hum Genet. 2009 Apr;54(4):193-8. Epub 2009 Mar 13. William's syndrome: gene expression is related to parental origin and regional coordinate control. Collette JC, Chen XN, Mills DL, Galaburda AM, Reiss AL, Bellugi U, Korenberg JR. [4]

--z3331556 18:09, 6 August 2011 (EST)

Review Article:The genomic basis of the Williams – Beuren syndrome •Williams syndrome is a genomic disorder with symptoms including mental retardation, visuospatial impairment & overfriendliness.

•It is caused due to a hemizygous contiguous gene deletion with regards to chromosome 7q11.23.

•This review article deals with the genomic assembly of the region involved in Williams syndrome as well as the chromosomal mechanisms such as deletions and duplications and the consequences of these.

Reference: Schubert, C. The genomic basis of the Williams – Beuren syndrome. Cell, Mol. Life Sci. 66:1178-1197, 2009 [5]

Research Article: Functional, structural and metabolic abnormalities of the hippocampl formation in Williams syndrome •In this study, neuroimaging (PET and fMRI) was used to investigate the hippocampal structure, function and metabolic integrity of 12 people with Williams syndrome compared to 12 healthy controls.

•N-acetul aspartate can be seen as a marker for synaptic activity and measures of this were reduced in those with Williams syndrome

•Although regular hippocampal size was maintained in both groups, slight changes in the shape were present.

•Through the results of the investigation, it was suggested that the neurocognitive abnormalities seen in Williams syndrome may be partly due to hippocampal dysfunction.

Reference: Meyer-Lindenberg A., et al. Functional, structural and metabolic abnormalities of the hippocampal formation in Williams syndrome. J Clin Invest. 115(7):1888-95, 2005 [6]

--z3332183 23:02, 9 August 2011 (EST)