International System for Human Cytogenomic Nomenclature (ISCN 2020): Additions and modifications in recording the results of fluorescenсе in situ hybridization and chromosomal microarray analysis in constitutional cytogenetics

Abstract

An International System for Human Cytogenomic Nomenclature has been and remains a single universal language ofcytogenetics all over the world. The unification of terms, abbreviations and formulas for describing chromosomal abnormalities, along with an understanding of the mechanisms that lead to the formation of these rearrangements, is the basis of the current International Cytogenomic Nomenclature System (ISCN). The rapid development in the field of molecular genetic technologies in recent decades forces authors to periodically update the nomenclature and supplement it with new data. A comparative analysis of ISCN 2020 and the previous version of the ISCN 2016 allowed us to demonstrate the main changes in the record of cytogenomic study results and conclude that the additions in the nomenclature reflect the current approach to the diagnosis of chromosomal abnormalities.