Rooryck Caroline, VuPhi Yen, Souakri Noui, Burgelin Ingrid, Saura Robert, Lacombe Didier, Arveiler Benoît, Taine Laurence
Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, France.
Eur J Med Genet. 2010 Mar-Apr;53(2):104-7. doi: 10.1016/j.ejmg.2010.01.003. Epub 2010 Feb 2.
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.
我们报告了一名患有眼耳脊椎综合征且存在新发平衡易位t(9;18)(p23;q12.2)的患者。通过荧光原位杂交对易位断点进行物理定位显示，断点位于两个包含基因荒漠的区域。通过阵列比较基因组杂交鉴定出18号染色体p11.23p11.31区域存在额外的父系遗传重复。我们讨论了这些染色体异常在眼耳脊椎综合征中的可能作用。
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