Pericentric inversion of chromosome 9 and clinical significance

ABSTRACT

The clinical significance of pericentric inversion of chromosome 9 [P inv [9]] cases was studied retrospectively from 680 peripheral blood cultures collected over a three- year period. The cytogenetic studies revealed 12 subjects with P inv [9]. Peripheral blood cultures were performed using the microtechnique. Chromosome examination was done using G-banding technique for all cases and C-banding technique was further done for carriers of P inv [9]. The clinical presentation of the inversion carrier cases was mental retardation in four cases and in one of these cases, the inversion was familial. Three partners of couples with repeated spontaneous abortion were also carriers of the inversion. One case had trisomy 21 in association with P inv [9], while another carrier of the inversion had a nephew with trisomy 21. One case had dysmorphic features and one case had a history of subfertility among the mother's family