Abstract
We have identified a recurrent de novo pericentromeric deletion in 16p11.2–p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2–p12.2 constitute a previously undescribed syndrome.
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Acknowledgements
The authors thank all of the families who participated in this study. We also recognize A. Theisen (Signature Genomic Laboratories) for his editorial assistance. This work was partly funded by a grant from the US National Institutes of Health (NIH) (HD047280-02) to L.G.S. (Washington State University). We appreciate the support from SHARE's Childhood Disability Center, the Steven Spielberg Pediatric Research Center, the Cedars-Sinai Burns and Allen Research Institute, the Skeletal Dysplasias NIH/National Institute of Child Health and Human Development Program (grant HD22657-11) and the Medical Genetics NIH/National Institute of General Medical Sciences Training Program (grant GM08243).
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L.G.S. and B.A.B. have ownership in, receive consulting fees from, and sit on the Members' Board of Signature Genomic Laboratories, LLC.
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Ballif, B., Hornor, S., Jenkins, E. et al. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2. Nat Genet 39, 1071–1073 (2007). https://doi.org/10.1038/ng2107
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DOI: https://doi.org/10.1038/ng2107
