title: A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor?
abstract: We describe a rare occurrence of pericentric inversion in homologues of chromosome 9 observed in a 2-mo-old female baby with eye and brain abnormalities. Her clinical and neuroradiological features are similar to the signs of Walker-Warburg syndrome. We found the same inversion in heterozygous condition in all metaphases of both parents, who are related, and in two grandparents 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 suspicions about whether the pericentric region of chromosome 9 has any connection with the phenotype of Walker-Warker syndrome.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Başkent University, Ankara, Turkey.
authors.forename: V
authors.initials: V
authors.lastname: Baltaci
authors.forename: R
authors.initials: R
authors.lastname: Ors
authors.forename: M
authors.initials: M
authors.lastname: Kaya
authors.forename: S
authors.initials: S
authors.lastname: Balci
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001921:Brain / Q000002:abnormalities*; D007446:Chromosome Inversion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008677:Metaphase / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome