由21三体综合征的核型引起的思考

不同的医学遗传学教材上对21三体综合征的概念及核型说法不一, 作者在查阅了大量教材的基础上, 对21三体综合征的概念及核型等问题进行了认真的思考, 并提出了自己的观点, 认为21三体综合征的核型应该为两种类型: 即三体型和嵌合型, 而先天愚型的核型应该为3种类型: 即三体型、嵌合型和易位型。

The thinking on the karyotypes of trisomy 21

Different textbooks about medical genetics have different concepts of trisomy 21 and its karyotypes. On the basis of a great deal of information, the author of the present paper has been seriously thinking about it, and puts forward that there should be two karyotypes of trisomy 21, trisomy and mosaicism, and there should be three karyotypes in Down’s syndrome, trisomy, mosaicism, and translocation.