【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。更多还原

【Abstract】 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.更多还原