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Williams-Beuren syndrome: a challenge for genotype-phenotype correlations Tassabehji MHum Mol Genet 2003[Oct]; 12 Spec No 2 (ä): R229-37Many human chromosomal abnormality syndromes include specific cognitive and behavioural components. Children with Prader-Willi syndrome lack a paternally derived copy of the proximal long arm of chromosome 15, and eat uncontrollably; in Angelman syndrome lack of a maternal contribution of 15q11-q13 results in absence of speech, frequent smiling and episodes of paroxysmal laughter; deletions on 22q11 can be associated with obsessive behaviour and schizophrenia. The neurodevelopmental disorder Williams-Beuren syndrome (WBS), is caused by a microdeletion at 7q11.23 and provides us with one of the most convincing models of a relationship that links genes with human cognition and behaviour. The hypothesis is that deletion of one or a series of genes causes neurodevelopmental abnormalities that manifest as the fractionation of mental abilities typical of WBS. Detailed molecular characterization of the deletion alongside well-defined cognitive profiling in WBS provides a unique opportunity to investigate the neuromolecular basis of complex cognitive behaviour, and develop integrated approaches to study gene function and genotype-phenotype correlations.|Animals[MESH]|Chromosomes, Human, Pair 15[MESH]|Chromosomes, Human, Pair 22[MESH]|Chromosomes, Human, Pair 7[MESH]|Cognition Disorders/physiopathology[MESH]|Disease Models, Animal[MESH]|Genomic Imprinting[MESH]|Genotype[MESH]|Humans[MESH]|Mice[MESH]|Phenotype[MESH]|Williams Syndrome/*genetics/physiopathology[MESH] |
