复杂易位遗传效应的探讨——附-例罕见复杂易位核型

本文报道一例罕见复杂易位核型:46,XX,t(1;14;10).并结合以往资料,探讨和分析复杂易位和一般平衡易位对表型及生育的遗传效应.结果显示,一般易位导致智能低下和多发畸形的频率各为3.57%;复杂易位所致智能低下频率为21.73%,多发畸形的频率为17.39%.提示复杂易位所致智能低下和畸形频率明显高于一般易位。 Abstract:In this paper,we report a rare karyotype of complex translocation:46,XX,t(1;14;10).Based on sufficient published data,we discussed and analyzed the genetic effect of complex translocation and general balanced translocation on phenotype and fertilization.The results show that general balanced translocation caused 3.57% low intelligence and multi-deformation while complex translocation caused 21.73% low intelligence and 17.39% multi-deformation respectively.These results sugget that there is a higher incedence of low intelligence and multi-deformation caused by complex translocation than that caused by general balanced translocation.     

复杂易位遗传效应的探讨—附一例罕见复杂易位核型

本报道一例罕见复杂易位核型：46,XX,t(1;14;10)。并到往资料,探讨和分析复杂易位和一般平衡易位对表型及生育的遗传效应。结果显示,一般易位导致智能低下和多发畸形的频率各为3.57%,复杂易位所致智能低下频率为21.73%, 多发畸形的频率为17.39%。提示复杂2易位所致智能低下和畸形频率明显高于一般易位。     

染色体着丝点结构变化与习惯性流产的关系

为探讨染色体Cd结构变化与习惯性流产关系,采用Cd-NOR同步银染技术,对38例习惯性流产患者和42例正常人Cd结构变异、Cd结构消失、Cd结构最大横径和Cd-NOR融合进行测量和比较分析。发现习惯性流产患者的Cd结构变异和Cd结构消失的频率明显高于正常人,Cd结构最大横径明显小于正常人。Cd结构消失和Cd结构变异频率的增高以及Cd结构最大横径变小可能是影响习惯性流产的相关因素。 Abstract:To study the correlation between chromosome centromeric dots and habitual abortions,Cd variation,Cd loss,maximum diameter of Cd and Cd-NOR of 38 habitual abortion patients and 42 healthy persons were measured,compared and analysed with Cd-banding technique.It was found that the frequencies of Cd variation and Cd loss were obviously higher and maximum diameter of Cd was smaller in habitual abortion patients than those in healthy persons.The increase of frequencies of Cd variation and Cd loss and the decrease of maximum diameter of Cd might be the causes affecting habitual abortions.