Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum
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- 作者：Caroline Rooryck ; Yen VuPhi ; Noui Souakri ; Ingrid Burgelin ; Robert Saura ; Didier Lacombe ; Benoî ; t Arveiler ; Laurence Taine
- 关键词：Oculoauriculovertebral spectrum ; Reciprocal balanced translocation ; t(9 ; 18)(p23 ; q12.2) ; Duplication 18p11.23p11.31 ; Highly conserved non-coding element
- 刊名：European Journal of Medical Genetics
- 出版年：2010
- 出版时间：March-April 2010
- 年：2010
- 卷：53
- 期：2
- 页码：104-107
- 全文大小：457 K
文摘
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.