A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9. coincidental finding or aetiological factor?

We describe a rare occurrence of pericentric inversion in homologues of chr omosome 9 observed in a 2-mo-old female baby with eye and brain abnormaliti es. Her clinical and neuroradiological features are similar to the signs of Walker-Warburg syndrome. We found the same inversion in heterozygous condi tion in all metaphases of both parents, who are related, and in two grandpa rents and their mother. The cytogenetic abnormality alone does not explain the phenotype in this patient, but it warrants further linkage studies with emphasis on the pericentric region of chromosome 9 in patients with Walker -Warburg syndrome phenotype. This family case is unique and raises suspicio ns about whether the pericentric region of chromosome 9 has any connection with the phenotype of Walker-Warker syndrome.