Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2010
Objective: To investigate the mechanism of the ring chromosome 9 formation by cytogenetic analysis of one case affected with ring chromosome 9 syndrome.
Methods: Routine chromosome GTG-binding analysis and dual-color fluorescence in situ hybridization (FISH) with TelVision 9p and 9q probes were applied to characterize the case.
Results: The G-binding revealed that the patient had ring chromosome 9 with the following karyotype: 45,X,-9/46,XX,r(9)(p24q34)/46,XX,r(9;9)(p24q34;p24q34)[4/92/4].