Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

@article{Sharp2006DiscoveryOP,
  title={Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome},
  author={Andrew J Sharp and Sierra Hansen and Rebecca R. Selzer and Ze Cheng and R. Steve Regan and Jane A. Hurst and Helen Stewart and Sue M Price and Edward Blair and Raoul C. M. Hennekam and Carrie A Fitzpatrick and Rick Segraves and Todd A. Richmond and Cheryl Guiver and Donna Albertson and Daniel Pinkel and Peggy S. Eis and Stuart H. Schwartz and Samantha J. L. Knight and Evan E. Eichler},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={1038-1042}
}
Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome, we investigated 130 regions that we hypothesized as candidates for previously undescribed genomic disorders. We tested 290 individuals with mental retardation by BAC array comparative genomic hybridization and identified 16 pathogenic rearrangements, including de novo microdeletions of 17q21.31 found… CONTINUE READING

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