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Article

Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement.

Clinical dysmorphology - 1 Jul 2004

Josifova Dragana J, Patton Michael A, Marks Karen

Abstract excerpt

We present two siblings with oculoauriculovertebral spectrum phenotype (Goldenhar syndrome) and an unbalanced translocation t(5;8)(p15.31;p23.1) resulting in monosomy for the region 5p15.31 to 5pter and trisomy for 8p23.2 to 8pter region. The father was a carrier of the balanced rearrangement 46,XY,t(5;8)(p15.31;8p23.1). To our knowledge this is the first report of Goldenhar phenotype in association with an...

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PMID: 15194950
DOI: 10.1097/01.mcd.0000126138.37196.26

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