A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

@article{Sharp2008AR1,
  title={A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures},
  author={Andrew J Sharp and Heather C. Mefford and Kelly Wing Man Li and Zev N. Kronenberg and Celia J Skinner and Roger E Stevenson and Richard J. Schroer and Francesca Novara and Manuela de Gregori and Roberto Ciccone and Adam J. Broomer and Iris Casuga and Yu Wang and Chunlin Xiao and C{\'a}t{\'a}lin B{\'a}rb{\'a}cioru and Giorgio Gimelli and Bernardo dalla Bernardina and Claudia Torniero and Roberto Giorda and R. Steve Regan and Victoria A. Murday and Sahar Mansour and Marco Fichera and Lucia Castiglia and Pinella Failla and Mario Ventura and Zhaoshi Jiang and Gregory M. Cooper and Samantha J. L. Knight and Corrado Romano and Orsetta Zuffardi and Michael Egholm and Charles E. Schwartz and Evan E. Eichler},
  journal={Nature Genetics},
  year={2008},
  volume={40},
  pages={322-328}
}
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine affected individuals, including six probands: two with de novo deletions, two who inherited the deletion from an affected parent and two with unknown inheritance. The proximal breakpoint of the largest deletion is contiguous with breakpoint 3 (BP3) of the Prader-Willi and Angelman syndrome region, extending 3.95 Mb distally to BP5. A smaller 1.5-Mb… CONTINUE READING
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