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Letter

Nature Genetics 38, 1032–1037 (1 September 2006) | doi:10.1038/ng1858

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Charles Shaw-Smith , Alan M Pittman , Lionel Willatt , Howard Martin , Lisa Rickman , Susan Gribble , Rebecca Curley , Sally Cumming , Carolyn Dunn , Dimitrios Kalaitzopoulos , Keith Porter , Elena Prigmore , Ana C V Krepischi-Santos , Monica C Varela , Celia P Koiffmann , Andrew J Lees , Carla Rosenberg , Helen V Firth , Rohan de Silva & Nigel P Carter

Recently, the application of array-based comparative genomic hybridization (array CGH) has improved rates of detection of chromosomal imbalances in individuals with mental retardation and dysmorphic features. Here, we describe three individuals with learning disability and a heterozygous deletion at chromosome 17q21.3, detected in each case by array CGH.