Article
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Nature genetics - 1 Sept 2006
Shaw-Smith Charles, Pittman Alan M, Willatt Lionel, Martin Howard, Rickman Lisa, Gribble Susan, Curley Rebecca, Cumming Sally, Dunn Carolyn, Kalaitzopoulos Dimitrios, Porter Keith, Prigmore Elena, Krepischi-Santos Ana C V, Varela Monica C, Koiffmann Celia P, Lees Andrew J, Rosenberg Carla, Firth Helen V, de Silva Rohan, Carter Nigel P
Abstract excerpt
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. FISH analysis demonstrated that the deletions occurred as...
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