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

@article{Josifova2004OculoauriculovertebralSP,
  title={Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement.},
  author={Dragana J. Josifova and Michael A. Patton and Karen J Marks},
  journal={Clinical dysmorphology},
  year={2004},
  volume={13 3},
  pages={151-3}
}
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.