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Eur J Med Genet. 2010 Mar-Apr;53(2):104-7. doi: 10.1016/j.ejmg.2010.01.003. Epub 2010 Feb 2.

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

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1
Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, France. caroline.rooryck-thambo@u-bordeaux2.fr

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.

PMID:
20132917
DOI:
10.1016/j.ejmg.2010.01.003
[Indexed for MEDLINE]

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