一家三代Robertson易位t(15;21)及其优生遗传咨询的探讨  

Robertson translocation t(15;21) in 3 generations 1 family as well as birth health genetic counseling

作　　者：王丽娟[1] 王挺[1] 张经[1] 江月珍[1] 高锦声[2] 

机构地区：[1]苏州市妇幼保健院,215004 [2]苏州大学医学院,215007

出　　处：《中国优生与遗传杂志》2003年第5期68-69,共2页Chinese Journal of Birth Health & Heredity

摘　　要：本文报道一家三代罗氏易位t(15 ;2 1) ,并探讨唐氏综合征核型分类与临床症状的相关性以及罗氏易位、平衡易位、不平衡易位、遗传效应、再发风险、配子形成、产前诊断、产前筛查、存在问题与未来展望 ,为读者提供唐氏综合征优生遗传咨询有价值的参考资料。This paper reported Robrtson translocation t(15;21) in 3 generation. 1 family and discussed relationship of karyotypic patterns between clinical status of Down's syndrome.Robertson translocation, Balanced tranxlocation, Unbalanced translocation, genetic effect, recurrence risk, gametic transformation, prenatal diagnosis, prenatal scanning, present problem and feture advance to provide valuabe reference data for birth health genetic counseling of Down's syndrome.

关 键 词：唐氏综合征 罗伯逊易位 优生遗传咨询 

分 类 号：R596.1[医药卫生—内科学]