【摘要】 目的对3例世界首报染色体异常核型进行研究探讨。方法采用外周血淋巴细胞72h培养,制备染色体。3例标本用G、C-显带法进行染色体核型分析。结果有两例染色体发生平衡易位。1例Y染色体臂内倒位。发现3种人类染色体异常核型,分别为46,XY,t(1;10)(q25;q24);46,XX,t(1;12)(q42;p13);45,X/46,X,inv(Y)(q11q12)。经鉴定确定为世界首报核型。结论染色体异常是导致自然流产及性腺发育不全的重要原因。更多还原

【Abstract】 Objective:To study three cases of world first reported karyotype.Methods:Chromosome specimens were prepared by 72 hours culture of blood lymphocyte.Karuotypes of 3 cases were analyzed using G-banding and C-banding.Results:Three kinds of human abnormal karyotypes were checked out.Two cases were detected chromosomal translocation,and one case was detected Y chromoeomal inversion.The karyotypes which were identified firstly report in the world were 46,XY,t(1;10)(q25;q24),46,XX,t(1;12)(q42;p13)and 45,X/46,X,inv(Y)(q11;q12).Conclusion:Abnomal karyotype is an important cause of spontaneous abortion and gonad dysgensis.更多还原