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

@article{ShawSmith2006MicrodeletionEM,
  title={Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability},
  author={Charles J. Shaw-Smith and Alan Pittman and Lionel R Willatt and Howard Martin and Lisa Rickman and Susan M. Gribble and Rebecca Curley and Sarah Cumming and Carolyn Dunn and Dimitrios Rafail Kalaitzopoulos and Keith M. Porter and Elena Prigmore and Ana Cristina Krepischi-Santos and Monica Castro Varela and C P Koiffmann and Andrew John Lees and Carla Rosenberg and Helen V. Firth and Rohan de Silva and Nigel P. Carter},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={1032-1037}
}
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 de novo events in each individual and were between 500 kb and 650 kb in size. A… 
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TLDR
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