Goldenhar syndrome and pericentric inversion of chromosome 9

ABSTRACT

Oculo-auriculovertebral dysplasia [Goldenhar] is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present a case of Goldenhar syndrome in a oneyr- old girl with pericentric inversion of chromosome 9. We used the patient's peripheral blood and studied 30 metaphase spreads on the basis of G-bands by trypsin using Giemsa [GTG] technique at 400 band resolution that revealed a pericentric inversion of chromosome 9 with break points at p11 and q13