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目的分析一例性发育异常患者的染色体畸变,探讨该患者性发育异常的可能遗传学机理。方法采集性发育异常患者外周血,并抽提基因组DNA,进行荧光原位杂交和微阵列比较基因组杂交,分析染色体异常。结果在部分细胞中,荧光原位杂交显示患者染色体Yq12区域片段重复,微阵列比较基因组杂交显示染色体Yq11.21-q11.23区域存在长14.582 Mb的重复片段(chrY∶12611424-27193624,包括基因USP9Y到PRY基因)。结论该45,XO嵌合体的性发育异常患者一个细胞系中,新发生衍生Y染色体结构为Yqter→Yq11.21∶∶Yp11.31→Yqter。荧光原位杂交联合微阵列比较基因组杂交技术可以检测染色体复杂的微小畸变,值得临床推广应用。
Objective To analyze chromosomal aberrations in a patient with dysplastic development and to explore the possible genetic mechanisms of this patient’s sexual dysplasia. Methods Peripheral blood samples from patients with abnormal development were collected and genomic DNA was extracted for comparison of chromosomal abnormalities by fluorescence in situ hybridization and microarray genomic hybridization. Results In some cells, fluorescence in situ hybridization showed that the region of chromosome Yq12 in the patient was duplicated. Compared with the genome-wide hybridization in the microarray, there was a repeat fragment 14.582 Mb in chromosome Yq11.21-q11.23 region (chrY: 12611424-27193624, including gene USP9Y To PRY gene). CONCLUSIONS: In a cell line with dysplasia of 45, XO chimeras, the newly derived Y chromosome was Yqter → Yq11.21:: Yp11.31 → Yqter. Fluorescent in situ hybridization combined with microarray comparative genomic hybridization can detect small and complex chromosome aberrations, it is worthy of clinical application.