世界首报染色体异常核型的遗传效应分析  

The analysis of the genetics effect of the abnormal chromosome karyotype reported firstly in the world

作　　者：王瑞艳[1] 张学红[1] 颉晓玲[1] 任育宏[1] 赵金珠[1] 

机构地区：[1]兰州医学院第一附属医院生殖中心,730000

出　　处：《中国优生与遗传杂志》2004年第5期60-60,59,F004,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的　探讨世界首报染色体异常核型产生的遗传效应。方法　外周血染色体常规分析。结果　 1例不孕合并子宫肌瘤异常核型为 4 6 ,XX ,t( 10 ;16 ) ( q11;p13) ;1例为不良产和自然流产为 4 6 ,XX ,t( 7;11) (q2 1;q2 4 ) ;另 1例仅表现为自然流产为 4 6 ,XX ,t( 2 ;8) (p2 5 ;q2 2 )。结论　 3例异常核型为世界首报 ,由此产生的遗传效应分别导致不孕、不良产。Objective: To disscus the genetics effect of abnormal chromosome karyotype reported firstly in the world. Methods:The blood chromosome specimen were analysed by the conventional technique. Results: The first karyotype of an infertility case with the uterine myoma was 46,XX,t(10;16)(q11;p13);the second with the abnormal birth and spontaneous abortion was 46,XX,t(7;11)(q21;q24); the third with the spontaneous abortion was 46,XX,t(2;8)(p25;q22). Conclusion: The three abnormal karyotype were reported firstly in the world.They induced the three different genetics effects: infertility, abnormal birth,spontaneous abortion.

关 键 词：染色体异常核型 自然流产 不孕 q22) 子宫肌瘤 外周血 遗传效应 

分 类 号：R394[医药卫生—医学遗传学]