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目的探讨染色体核型异常与发育异常的关系。方法对2004年5月到2008年5月到吉林省生殖医学研究所临床基地进行遗传咨询的2485例患者进行外周血淋巴细胞培养,染色体核型分析。结果2485例遗传咨询者中,染色体核型异常257例,异常率为10.34%。在染色体异常核型中,性染色体异常154例,占59.92%;常染色体异常103例,占40.08%。其中发育异常患者90例,占35.02%。结论发育异常与染色体核型异常有着密切的关系,对发育异常患者进行染色体核型分析,有利于临床诊断,也可为遗传咨询提供依据。
Objective To explore the relationship between chromosomal abnormalities and dysplasia. Methods From May 2004 to May 2008, 2485 patients who had genetic counseling to the clinical base of Jilin Reproductive Medicine Institute were subjected to peripheral blood lymphocyte culture and chromosome karyotype analysis. Results Among the 2485 cases of genetic counseling, 257 cases were abnormal in karyotype, the rate of abnormality was 10.34%. In chromosomal abnormal karyotypes, 154 cases of chromosomal abnormalities, accounting for 59.92%; autosomal abnormalities in 103 cases, accounting for 40.08%. 90 cases of dysplasia patients, accounting for 35.02%. Conclusion The abnormality of development is closely related to the chromosomal abnormalities in karyotypes. Chromosomal karyotyping in patients with dysplasia is helpful for clinical diagnosis and may provide the basis for genetic counseling.