Characterization of a recurrent 15q24 microdeletion syndrome.

@article{Sharp2007CharacterizationOA,
  title={Characterization of a recurrent 15q24 microdeletion syndrome.},
  author={A. Sharp and R. Selzer and J. Veltman and S. Gimelli and G. Gimelli and P. Striano and A. Coppola and R. Regan and S. Price and N. Knoers and P. S. Eis and H. Brunner and R. Hennekam and S. Knight and B. D. de Vries and O. Zuffardi and E. Eichler},
  journal={Human molecular genetics},
  year={2007},
  volume={16 5},
  pages={
          567-72
        }
}
We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7-3.9 Mb in size). High-resolution analysis showed that in three patients both proximal and distal breakpoints co-localized to highly identical segmental duplications (>51 kb in length, > 94% identity), suggesting non-allelic homologous recombination as the likely mechanism of origin. Sequencing studies in a fourth individual provided base pair resolution and showed that both… Expand
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