Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

@article{Bon2009FurtherDO,
  title={Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.},
  author={Bregje W van Bon and Heather C. Mefford and Bjorn Menten and David A. Koolen and Andrew J. Sharp and Willy M. Nillesen and Jeffrey W. Innis and Thomy J. L. de Ravel and Catherine L Mercer and Marco Fichera and Helen Stewart and Laureen E. Connell and Katrin {\~O}unap and Katherine L. Lachlan and Bruce Castle and N Van der Aa and Conny M. A. van Ravenswaaij and Marcelo A. Nobrega and Clara Serra-Juh{\'e} and Ingrid Simonic and Nicole de Leeuw and Rolph Pfundt and Ernie M. H. F. Bongers and C G J Baker and Phyllis Finnemore and Shuwen Huang and Viv K Maloney and John Anthony Crolla and M van Kalmthout and Maurizio Elia and Geert Vandeweyer and J. P. Fryns and Sandra Janssens and Nicola C. Foulds and Santina Reitano and Kath Smith and Sven Parkel and Bart Loeys and C Geoffrey Woods and Ann Oostra and Frank Speleman and Alexandre da Costa Pereira and Ants Kurg and Lionel R Willatt and Samantha J. L. Knight and Joris Robert Vermeesch and Corrado Romano and John C K Barber and Geert Mortier and Luis A. P{\'e}rez-Jurado and Frank Kooy and Han G. Brunner and Evan E. Eichler and Tjitske Kleefstra and Bert B A de Vries},
  journal={Journal of medical genetics},
  year={2009},
  volume={46 8},
  pages={511-23}
}
BACKGROUND Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints and associated with mild to moderate mental retardation and epilepsy. METHODS To assess further the clinical implications of this novel 15q13.3 microdeletion syndrome, 18 new probands with a deletion were molecularly and clinically characterised. In addition, we evaluated the characteristics of a family with a more proximal deletion between BP3 and BP4. Finally, four… CONTINUE READING