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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 analyze the karyotypes of children and their parents and review the relevant literature to explore the characteristics of the translocation type 21 trisomy syndrome and provide information for genetic counseling. Methods Peripheral blood lymphocytes from children and their parents were cultured. The karyotypes of metaphase chromosomes were analyzed by conventional G - banding technique and the related literatures were reviewed. Results The karyotype was 46, XY, -14, + t (14q; 21q). The karyotype was 45, XY, -14, -21, + t , XX. Literature review shows that the translocation type 21 trisomy syndrome is relatively rare, the production of trisomy syndrome and reproductive age, the history of exposure to harmful substances and other factors. Conclusion The pedigree pedigree is a translocation type trisomy 21 carrier. The abnormal Robertsonian translocation chromosome may originate from Robertsonian translocation fathers. 21 trisomy syndrome and a variety of factors related to the production of the trisomy 21 trisomic karyotype analysis of the pedigree, is conducive to the parents of children with reproductive guidance and improve the quality of birth of the population.