Journal article
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
Nature genetics, Vol.39(9), pp.1071-1073
09/2007
Handle:
https://hdl.handle.net/2376/104723
PMID: 17704777
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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Details
- Title
- Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
- Creators
- Sara A Hornor - Health Research and Education Center, Washington State UniversityElizabeth Jenkins - Children's Hospital of PittsburghSuneeta Madan-Khetarpal - Children's Hospital of PittsburghLivija Medne - The Children's Hospital of PhiladelphiaRobert L Conway - Cedars-Sinai Medical CenterLisa G Shaffer - Signature Genomic Laboratories Health Research and Education Center, Washington State UniversityGordon C Gowans - Weisskopf Child Evaluation CenterJoel Geoghegan - NimbleGen SystemsKelly E Jackson - Weisskopf Child Evaluation CenterBlake C Ballif - Signature Genomic LaboratoriesTamim H Shaikh - The Children's Hospital of PhiladelphiaAlexander Asamoah - Weisskopf Child Evaluation CenterBassem A Bejjani - Signature Genomic Laboratories Health Research and Education Center, Washington State University Sacred Heart Medical CenterUrvashi Surti - Department of Pathology, University of Pittsburgh Magee-Womens HospitalJohn M Graham - Cedars-Sinai Medical CenterPamela L Brock - Weisskopf Child Evaluation CenterPeggy S Eis - NimbleGen SystemsElaine H Zackai - The Children's Hospital of PhiladelphiaRebecca R Selzer - NimbleGen Systems
- Publication Details
- Nature genetics, Vol.39(9), pp.1071-1073
- Academic Unit
- Center for Reproductive Biology; Medical Education and Clinical Science, Department of
- Identifiers
- 99900546961501842
- Language
- English
- Resource Type
- Journal article