世界首报染色体畸变核型遗传特点的研究

The Study about the Heredity of Aberration Karyotype of the Chromosome Reported the First Time in the World

目的分析世界首报3例染色体畸变核型的遗传特点,为进一步研究染色体病的预防和治疗提供理论基础。方法取受检者外周血,进行淋巴细胞培养,常规制备染色体,G显带,镜下计数50个中期分裂相,显微摄影分析10个核型。结果例1为4号染色体长臂部分三体综合征,例2为t(2;9)平衡易位携带者,例3为t(1;8)平衡易位携带者。结论首次发现的3例染色体畸变核型遗传特点是:其畸变核型均来自于母亲的平衡易位,造成的痴呆儿、自然流产、畸形儿。

Objective Analyse of the hereditary characteristic of aberration karyotype 3 cases of chromosome which is the first time reported in the world. Methods Peripheral lymphocyte were detected by cytogeneties method, G - banding. Assayed karyotype under mierope, take count of 50metaphase, analysed 10 karyotype. Results One is Patau Syndrome of long arm of the fourth chromosome, another is carrier of reciprocal traslocation of t （ 2 ;9 ）. The last is carrier of reciprocal traslocation of t （ 1 ;8 ）. Conclusion The heredity characteristic of aberration karyotype in the 3 cases of chromosome is all of them come from reciprocal traslocation of mother which produced athymia, spontaneous abortion and abnormal children.