Systematic name M14238
Brief description Candidate genes in the pericentromeric microdeletion in 16p11.2-p12.2 associated with developmental disabilities.
Full description or 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.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 17704777   Authors: Ballif BC,Hornor SA,Jenkins E,Madan-Khetarpal S,Surti U,Jackson KE,Asamoah A,Brock PL,Gowans GC,Conway RL,Graham JM Jr,Medne L,Zackai EH,Shaikh TH,Geoghegan J,Selzer RR,Eis PS,Bejjani BA,Shaffer LG
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Source species Homo sapiens
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