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目的探讨共济失调毛细血管扩张症的细胞遗传学异常特点。方法收集来自３个家系本病患者６例，进行外周血淋巴细胞Ｇ显带分析。结果６例患者中４例有染色体异常，在该４例患者所分析的１２９个细胞中，４３个细胞有核型异常，累及１、７、１４、２、４、６、１１、１７号染色体的分别有１８、１８、１５、３、２、１、１、１个细胞；４３个异常核型细胞中，缺失、易位、染色体断裂、双着丝粒、倒位各有１９、１６、４、１、１个细胞。结论１号染色体与７号、１４号染色体一样，均是本病最不稳定的染色体，缺失和易位是本病细胞遗传学最常见的异常方式
Objective To investigate the cytogenetic abnormalities of ataxia telangiectasia. Methods Six patients from three pedigrees were collected for G-banding analysis of peripheral blood lymphocytes. Results Of the 6 patients, 4 had chromosomal abnormalities. Of the 129 cells analyzed in the 4 patients, 43 were abnormal in karyotype, involving chromosomes 1, 7, 14, 2, 4, 6, 11 and 17 18, 18, 15, 3, 2, 1, 1, and 1 cell respectively. In 43 abnormal karyotype cells, deletion, translocation, chromosome breakage, 4,1,1 cells. Conclusion chromosome 1 and chromosome 7, 14, are the most unstable chromosomes, deletion and translocation of the disease is the most common cytogenetic abnormalities