Goldenhar Syndrome and Pericentric Inversion of Chromosome 9

Oculo-auriculovertebral dysplasia (goldenhar) is a congenitalsyndrome. its phenotype differs from craniofacial anomalies tocardiac, vertebral or central nervous system defects. this syndromeis rare and its etiology is not apparent yet. pericentric inversionof chromosome 9 is one of the most common structuralbalanced chromosomal aberrations with its incidences 15% to25%. herein we present a case of goldenhar syndrome in a oneyr-old girl with pericentric inversion of chromosome 9. we usedthe patient's peripheral blood and studied 30 metaphase spreadson the basis of g-bands by trypsin using giernsa (gtg) techniqueat 400 band resolution that revealed a pericentric inversionof chromosome 9 with break points at p1i and q13