On the basis of discussing and checking cell genetics of 171 Down syndrome,analysising chromosomal karyotypes of peripheral blood lymphocytes in patients,looking into inducing factor leading to chromosome abnormal.The...On the basis of discussing and checking cell genetics of 171 Down syndrome,analysising chromosomal karyotypes of peripheral blood lymphocytes in patients,looking into inducing factor leading to chromosome abnormal.The result showed chromosome abnormal is a basis reasons of Down syndrome,It has occasional and inducing factor such as years of mom,environment and so on have an important effect to it.So we must strengthen environment protection of pregnant women,preventing and selectable of Down syndrome.展开更多
人类细胞基因组学国际命名体系(An International System for Human Cytogenomic Nomenclature,ISCN)是用于描述通过染色体核型分析、荧光原位杂交、微阵列、多种特定区域的检测技术以及高通量测序等技术所检测到的基因组重排结果的国...人类细胞基因组学国际命名体系(An International System for Human Cytogenomic Nomenclature,ISCN)是用于描述通过染色体核型分析、荧光原位杂交、微阵列、多种特定区域的检测技术以及高通量测序等技术所检测到的基因组重排结果的国际通用准则。2019年,人类细胞基因组学国际命名委员会对ISCN进行了修订,并于2020年10月正式颁布。本文对《人类细胞基因组学国际命名体系(ISCN2020)》的更新内容进行了介绍和总结。展开更多
文摘On the basis of discussing and checking cell genetics of 171 Down syndrome,analysising chromosomal karyotypes of peripheral blood lymphocytes in patients,looking into inducing factor leading to chromosome abnormal.The result showed chromosome abnormal is a basis reasons of Down syndrome,It has occasional and inducing factor such as years of mom,environment and so on have an important effect to it.So we must strengthen environment protection of pregnant women,preventing and selectable of Down syndrome.
文摘人类细胞基因组学国际命名体系(An International System for Human Cytogenomic Nomenclature,ISCN)是用于描述通过染色体核型分析、荧光原位杂交、微阵列、多种特定区域的检测技术以及高通量测序等技术所检测到的基因组重排结果的国际通用准则。2019年,人类细胞基因组学国际命名委员会对ISCN进行了修订,并于2020年10月正式颁布。本文对《人类细胞基因组学国际命名体系(ISCN2020)》的更新内容进行了介绍和总结。