Brief Communication abstract
Nature Genetics 39, 1071 - 1073 (2007)
Published online: 19 August 2007 | doi:10.1038/ng2107
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2
Blake C Ballif1, Sara A Hornor2, Elizabeth Jenkins3, Suneeta Madan-Khetarpal3, Urvashi Surti4,5, Kelly E Jackson6, Alexander Asamoah6, Pamela L Brock6, Gordon C Gowans6, Robert L Conway7, John M Graham, Jr7, Livija Medne8, Elaine H Zackai8, Tamim H Shaikh8, Joel Geoghegan9, Rebecca R Selzer9, Peggy S Eis9, Bassem A Bejjani1,2,10 & Lisa G Shaffer1,2
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.
- Signature Genomic Laboratories, Spokane, Washington 99202, USA.
- Health Research and Education Center, Washington State University, Spokane, Washington 99210, USA.
- Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA.
- Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA.
- Magee-Womens Hospital, Pittsburgh, Pennsylvania 15213, USA.
- Weisskopf Child Evaluation Center, Louisville, Kentucky 40202, USA.
- Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.
- The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
- NimbleGen Systems, Madison, Wisconsin 53711, USA.
- Sacred Heart Medical Center, Spokane, Washington 99204, USA.
Correspondence to: Lisa G Shaffer1,2 e-mail: lshaffer@wsu.edu
MORE ARTICLES LIKE THIS
These links to content published by NPG are automatically generated.
RESEARCH
Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platformsEuropean Journal of Human Genetics Article Response
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresNature Genetics Letter (01 Mar 2008)
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGHEuropean Journal of Human Genetics Article Response
See all 23 matches for Research