二例世界首报染色体异常核型分析  

Analysis on two cases of world′s first reported abnormal karyotype

作　　者：平慧[1] 郭红霞[1] 李守霞[1] 董志玲[1] 栗瑞敏[1] 牛丽辉[1] 

机构地区：[1]河北省邯郸市中心医院检验科,河北邯郸056001

出　　处：《中国优生与遗传杂志》2015年第2期46-47,49,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的对发现的2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培养并制备染色体标本,常规G显带,Giemsa染色,显微镜下进行染色体核型分析。结果检出2例世界首报异常染色体核型,分别为46,XY,t(2;4)(q24;q35);46,XX,t(2;6)(q37;q24)。结论染色体异常是导致不良孕产史的重要原因,临床上应重视对上述疾病患者的染色体核型分析检查并提供遗传咨询和生育指导。Objective：To study two cases of world′s first reported abnormal karyotype. Methods：G-banding and Giemsa staining after peripheral blood lymphocyte culture and chromosome preparation.Karyotype analysis was done under the microscope. Results：Two cases of world′s first reported abnormal karyotype were checked out.The karyotypes which were identified firstly report in the world were 46,XY,t（2;4）（q24;q35）;46,XX,t（2;6）（q37;q24）. Conclution：Abnormal karyotype is an important cause of abnormal gestation and birth.Chromosome karyotype analysis should be tested for these patients,it is neccesary to consult on genetics and reproductive health.

关 键 词：染色体 异常核型 平衡易位 不良孕产史 

分 类 号：R394.2[医药卫生—医学遗传学]