| Literature DB >> 20132917 |
Caroline Rooryck1, Yen VuPhi, Noui Souakri, Ingrid Burgelin, Robert Saura, Didier Lacombe, Benoît Arveiler, Laurence Taine.
Abstract
We report a patient presenting with oculoauriculovertebral spectrum and a de novo balanced reciprocal translocation t(9;18)(p23;q12.2). Physical mapping of the translocation breakpoints by fluorescent in situ hybridization showed that the breakpoints are located in two regions encompassing gene deserts. An additional paternally inherited duplication in 18p11.23p11.31 was identified by array-CGH. We discuss the possible involvement of these chromosomal abnormalities in OAVS. Copyright 2010 Elsevier Masson SAS. All rights reserved.Entities:
Mesh：
Year: 2010 PMID： 20132917 DOI： 10.1016/j.ejmg.2010.01.003
Source DB: PubMed Journal: Eur J Med Genet ISSN： 1769-7212 Impact factor: 2.708