Article
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.
European journal of human genetics : EJHG - 1 Sept 2007
Sahoo Trilochan, Bacino Carlos A, German Jennifer R, Shaw Chad A, Bird Lynne M, Kimonis Virginia, Anselm Irinia, Waisbren Susan, Beaudet Arthur L, Peters Sarika U
Abstract excerpt
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by mental retardation, absent speech, ataxia, and a happy disposition. Deletions of the 15q11q13 region are found in approximately 70% of AS patients. The deletions are sub-classified into class I and class II based on their sizes of approximately 6.8 and approximately 6.0, respectively, with two different proximal breakpoints and a common...
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