28例罕见的染色体异常核型遗传学研究

The Genetic Research of 28 Cases Rare Abnormal Karyotypes

目的通过对3 858例不孕不育、自然流产和死胎、生育异常患儿的患者染色体分析,探讨平衡易位与相应临床效应的关系。方法取患者外周血进行淋巴细胞培养,按常规方法制备染色体,应用G显带和C显带技术进行核型分析。结果在3 858例中发现异常核型435例,其中平衡易位73例,包括世界首报染色体平衡易位异常核型28例,占平衡易位异常的38％(28／73)。结论染色体平衡易位是引起不孕不育、自然流产及死胎、生育异常儿的重要原因,对有相关临床症状的患者进行染色体检查是非常必要的。

Objective To study the relationship between balanced translocation of chromosome and the clinical effect by cytogenetic analyses of 3 858 patients with infertility, habitual ＇abortion, dead fetus or abnormal birth. Methods The peripheral blood lymphocytes of the patients were cultured routinely for the karyotype analysis with G banding and C banding techniques. Results Among 3 858 cases, 435 were found having chromosomal abnormalities including 73 cases of balanced translocation and among which 28 cases were first worldwide reported （ accounting for 38% of the balanced translocation ）. Conclusion The balanced translocation of chromosome is an important factor in causing infertility, habitual abortion, dead fetus or abnormal birth： Therefore, it is very important to perform the cytogenetic analysis for patients with relative clinical syndromes.