Key updates in the 2024 Edition of the International System for Human Cytogenomic Nomenclature (ISCN).
10.3760/cma.j.cn511374-20250523-00324
- Author:
Hao WANG
1
;
Yi LAI
;
Juan WEN
;
Na HAO
Author Information
1. Assisted Reproduction Unit, Department of Obstetrics and Gynecology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310016, China. haona@pumch.cn.
- Publication Type:Journal Article
- MeSH:
Humans;
Terminology as Topic;
Genomics;
Genome, Human/genetics*
- From:
Chinese Journal of Medical Genetics
2025;42(7):848-854
- CountryChina
- Language:Chinese
-
Abstract:
The 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.
