Karyotype analysis of 161 unrelated schizophrenics: no increased rates of X chromosome mosaicism or inv(9), using ethnically matched and age-stratified controls

Abstract 

Chromosomal aberrations have long been studied in an effort to identify susceptibility genes in schizophrenia. The two most frequently detected abnormalities are X chromosome mosaicism in female patients and pericentric inversions of chromosome 9 [inv(9)]. Chromosome X aneuploidies are known to be age dependent but differences due to ethnicity remain undetermined. In the case of inv(9), its prevalence in the general population varies with ethnicity. To evaluate the importance of these karyotypic changes in schizophrenia, cytogenetic analysis was performed on 161 unrelated schizophrenics of Japanese origin. We observed an increase in the incidence of X chromosome mosaicism in female schizophrenics with age. However, when compared with age matched female controls (92 individuals), no significant differences between patient and control samples were detected. Moreover, this study showed that there is no significant difference in the incidence of X chromosome loss between Japanese and Caucasian populations. The four cases with inv(9) (2.5%) detected in this study, did not differ significantly from the reported incidence of between 1.7 and 2.1% seen in the general Japanese population. We also observed a small number of additional karyotypic changes, none of which were recurrent. This is the first report to examine the comparative rates of X mosaicism in female schizophrenics and age matched controls.

Keywords: Aneuploidy, Pericentric inversion, Chromosome 9, Chromosome 21, High-resolution banding, idic(Y) (q11)