摘要人类细胞基因组学国际命名体系(An International System for Human Cytogenomic Nomenclature，ISCN)是由人类细胞基因组学国际命名常设委员会(International Standing Committee on Human Cytogenomic Nomenclature，ISCN SC)制定的用于描述通过常见的细胞遗传学与基因组学检测技术(包括但不限于染色体核型分析、荧光原位杂交、基因芯片、基因组图谱、多种特定区域检测以及测序等技术)所检测到的染色体、基因组及碱基异常的国际通用命名规则，已有60多年的历史。2024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2024年9月正式出版。本文对《人类细胞基因组学国际命名体系》2024版的更新内容进行了总结。

abstractsThe International System for Human Cytogenomic Nomenclature (ISCN) is a standardized international nomenclature system established by the International Standing Committee on Human Cytogenomic Nomenclature (ISCN SC). It is designed for describing chromosomal or genomic abnormalities detected by commonly used genetic and genomic techniques including but not limited to karyotyping, fluorescence in situ hybridization, microarray, genome mapping, various region-specific assays, and high-throughput sequencing. With a history spanning over six decades, the ISCN was revised by the ISCN SC in 2024 and officially published in September 2024. This article provides a summary for the updates introduced in the 2024 edition of the International System for Human Cytogenomic Nomenclature.