Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement.
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.
Josifova
Dragana J
DJ
Department of Clinical Genetics, St. George's Hospital Medical School, Cranmer Terrace, London, UK.
Patton
Michael A
MA
Marks
Karen
K
D000328:Adult; D002895:Chromosomes, Human, Pair 5; D002898:Chromosomes, Human, Pair 8; D019066:Facies; D005192:Family Health; D005220:Fathers; D005260:Female; D006053:Goldenhar Syndrome / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009006:Monosomy; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy