两代罕见罗伯逊易位rob（13q;15q）家系分析  

Family analysis of two generations of rare Robertsonian translocation rob （13q;15q）

作　　者：周宏[1] 夏娟[1] 李冬[1] 

机构地区：[1]同济大学附属同济医院检验科,上海200065

出　　处：《检验医学与临床》2017年第A02期17-19,共3页Laboratory Medicine and Clinic

基　　金：上海市第四轮公共卫生体系建设三年行动计划（15GWZK0301）.

摘　　要：目的 对1例罕见的两代罗伯逊易位rob（13q;15q）家系进行分析并探讨其遗传机理.方法 对患者及其父母进行外周血淋巴细胞常规培养,制备染色体G显带标本,镜下核型分析.结果 患者的核型为：45,XY,rob（13;15）（q10;q10）.其母亲的核型为：45,XX,rob（13;15）（q10;q10）其父亲的核型为：46,XY.结论 先证者的易位核型是由母亲遗传而来.母亲生出罗伯逊异位携带男性子代,此男性子代少精并不育.Objective To analyze a rare two-generation Robertsonian translocation （13q;15q） family and explore its genetic mechanism.Methods Peripheral blood lymphocytes of patient and their parents were cultured.Chromosome samples（G banding method）were prepared and the karyotype were analyzed by microscope.Results The karyotype of the patients was 45,XY,rob （13;15）（q10;q10）.The karyotype of his mother is：45,XX,rob（13;15）（q10;q10）The karyotype of his father is：46,XY.Conclu-sion The translocation karyotype of the patient is inherited by the mother.Mother born Robertsonian translocation carrier male offspring and this male offspring is Infertile.

关 键 词：染色体核型 罗伯逊易位 不孕不育 

分 类 号：R596.1[医药卫生—内科学]