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

    loading  Checking for direct PDF access through Ovid

Abstract

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 unbalanced (5p;8p) translocation.

Related Topics

    loading  Loading Related Articles