罕见父源性染色体易位合并21三体综合征家系及文献综述

A review and report a rare family with chromosome translocation of parent source combining 21 trisomy syndrome

目的分析患儿及其父母的染色体核型,并对相关文献进行复习,探讨易位型21三体综合征的特点,为遗传咨询提供信息。方法取患儿及其父母外周血淋巴细胞进行培养,用常规G显带技术对中期细胞染色体进行核型分析并复习相关文献资料。结果患儿核型为46,XY,-14,+t(14q;21q),其父亲核型为45,XY,-14,-21,+t(14q;21q),其母亲核型为46,XX。文献复习表明易位型21三体综合征相对较为罕见,三体综合征的产生与生育年龄、有害物质接触史等多种因素有关。结论本家系患儿为易位型21三体携带者,其罗伯逊易位异常染色体可能来源于罗伯逊易位携带者父亲。21三体综合征的产生与多种因素有关,对易位型21三体综合征家系进行核型分析,有利于对患儿父母进行再生育指导和提高人口出生质量。

Objective：To investigate the chromosome karyotype of a child and their parents and review the literature;to discuss the characteristics of translocation trisomy 21 and provide information for genetic counseling. Methods：The chromosomes of metaphase cells were analyzed by karyotyping technique and the related literatures were reviewed. Results：The karyotype of the child,the father and the mother were 46,XY,-14,＋t（14q;21q）,45,XY,-14,-21,＋t（14q;21q）and 46,XX respectively. The literature review indicated that the translocation trisomy 21 was relatively rare,the incidence of trisomy syndrome was associated with reproductive age,exposure to harmful substances and other variety of factors. Conclusion：The child is a translocation 21 trisomy carrier;the abnormality of robertsonian translocation chromosome may be derived from the father with robertson translocation.Trisomy 21 syndrome is related to many factors. And it is helpful to carry on the karyotype analysis to the patients with 21 trisomy syndrome,which may be helpful to get fertility guidance for the parents.