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The International System for Human Cytogenomic Nomenclature (ISCN) offers standard nomenclature that is used to describe any genomic rearrangement identified by techniques ranging from karyotyping to FISH, microarray, various region-specific assays, and DNA sequencing. Suggestions from the international cytogenetics community have been reviewed by the Standing Committee, an international group of experts-nominated and elected by their peers.
In this new edition ISCN 2020 the Committee decided, apart from making regular corrections and updates, to implement more fundamental changes. Due to the increased use of technologies such as microarray and sequencing which orientate chromosomes by nucleotide number from Ater to qter, the Committee decided to standardize this approach across all technologies, including banded chromosomes. It was decided to present sex chromosome abnormalities before those affecting autosomes for all technologies.
The nomenclature now also clarifies whether rearrangements are inherited intact or partially as a derivative. Finally, the Committee identified the needs for specific nomenclature to the analysis of polar bodies, and to improve the existing nomenclature based on sequencing technologies. ISCN 2020 is an indispensable reference volume for human cytogeneticists, molecular biologists, technicians, and students for the interpretation and communication of human cytogenomic nomenclature.