Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum

European Journal of Medical Genetics
Caroline RooryckLaurence 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.

References

Jul 27, 2005·Molecular Psychiatry·J P CorradiS T Furlong
May 3, 2007·European Journal of Human Genetics : EJHG·Marianne StefBenoît Arveiler
Aug 7, 2007·PLoS Genetics·Yan YangWayne N Frankel

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Citations

Aug 15, 2014·Journal of Medical Genetics·Ana Beleza-MeirelesMay Tassabehji
May 21, 2013·Ophthalmology·Jwu Jin KhongAlan A McNab
Jul 25, 2015·European Journal of Medical Genetics·Ana Beleza-MeirelesMay Tassabehji

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