Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

@article{Hannes2009RecurrentRD,
  title={Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant},
  author={Femke Hannes and Andrew J Sharp and Heather C. Mefford and Thomy de Ravel and Claudia A. L. Ruivenkamp and Martijn H. Breuning and J P Fryns and Koenraad Devriendt and Griet van Buggenhout and Annick Vogels and Heather Stewart and Raoul C Hennekam and Greg M. Cooper and Regina Regan and Samantha J. L. Knight and Evan E. Eichler and Joris Robert Vermeesch},
  journal={Journal of Medical Genetics},
  year={2009},
  volume={46},
  pages={223 - 232}
}
BACKGROUND Genomic disorders are often caused by non-allelic homologous recombination between segmental duplications. Chromosome 16 is especially rich in a chromosome-specific low copy repeat, termed LCR16. METHODS AND RESULTS A bacterial artificial chromosome (BAC) array comparative genome hybridisation (CGH) screen of 1027 patients with mental retardation and/or multiple congenital anomalies (MR/MCA) was performed. The BAC array CGH screen identified five patients with deletions and five… CONTINUE READING

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References

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Altered activity, social behavior, and spatial memory in Original article

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