An International System for Human Cytogenomic Nomenclature (ISCN 2020): Additions and modifications in recording the results of standard cytogenetic study in constitutional chromosome abnormalities
https://doi.org/10.25557/2073-7998.2023.04.3-10
Abstract
The current version of the International Human Cytogenomic Nomenclature System (ISCN 2020) is published in 2020. This review reflects all the important changes from the previous 2016 version of the nomenclature, which may be relevant for recording the results of a standard cytogenetic study. First of all, it concerns the order of recording chromosome breakpoints and marking the inheritance of rearrangements in the conclusion of the study results. The new version also adds some sections and tables, modifies and adds examples of recording the karyotype formula at various rearrangements, and makes changes in the text structure.
Keywords
ISCN 2020,
ISCN 2016,
international system of human cytogenomic nomenclature,
chromosomal abnormalities,
standard cytogenetic study
Supporting agencies: The study was supported by the State Task №122032300370-1 “Study of structure-functional features and mechanisms of formation of the chromosomal abnormalities and genomic imbalance”.
About the Authors
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
V. G. Antonenko
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
M. E. Minzhenkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
D. V. Zaletaev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
References
1. ISCN 2020 – An International System for Human Cytogenomic Nomenclature (2020) Ed. McGovan-Jordan J., Hastings R.J., Moore S. Karger. 2020.
2. ISCN 2016 – An International System for Human Cytogenomic Nomenclature (2016) Ed. McGovan-Jordan J., Simons A, Schmid M. Karger. 2016.
3. ISCN Online. https://iscn.karger.com/
4. Miller K., Madan K. ISCN 2020 compared to ISCN 2016. European Cytogeneticists Association Newsletter. 2021; 47:2-11.
5. Erratum. Cytogenet Genome Res. 2021;161:476-477
6. Silva M., de Leeuw N., Mann K. et al. European guidelines for constitutional cytogenomic analysis. Eur J Hum Genet. 2019;27:1-16.
Review
For citations:
Shilova N.V., Antonenko V.G., Minzhenkova M.E., Zaletaev D.V. An International System for Human Cytogenomic Nomenclature (ISCN 2020): Additions and modifications in recording the results of standard cytogenetic study in constitutional chromosome abnormalities. Medical Genetics. 2023;22(4):3-10. (In Russ.) https://doi.org/10.25557/2073-7998.2023.04.3-10
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