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ISCN 2024: A Review of Some Additions and Changes to the Chromosomal Microarray Nomenclature

https://doi.org/10.25557/2073-7998.2026.09.75-82

Abstract

The International System for Human Cytogenomic Nomenclature (ISCN) is the current guideline defining nomenclature standards for reporting the results of cytogenomic studies, including chromosomal microarray analysis. The 2024 edition updates the rules for reporting chromosomal abnormalities detected using cytogenomic methods, thereby ensuring uniformity in the recording and interpretation of test results. This review presents the most significant changes to the nomenclature for chromosomal microarray analysis.

About the Authors

Zh. G. Markova
Research Centre for Medical Genetics
Russian Federation

Markova Zh. G. 



N. V. Shilova
Research Centre for Medical Genetics
Russian Federation

Shilova N. V. 



References

1. An International System for Human Cytogenetic Nomenclature (2024). Hastings R. J., Moore S., Chia N. (eds), Karger, Basel, 2024.

2. An International System for Human Cytogenetic Nomenclature (2020). McGovan-Jordan J., Hastings R. J., Moore S. (eds) Karger, Bazsel, 2020.

3. Zepeda-Mendoza C. J., Morton C. C. The iceberg under water: Unexplored complexity of chromoanagenesis in congenital disorders. Am J Hum Genet., 2019, vol. 104, no. 4, pp. 565-577.

4. Stephens P. J., Greenman C. D., Fu B., et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell, 2011, vol. 144, pp. 27-40.

5. Rausch T., Jones D. T., Zapatka M., et al. Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. Cell, 2012, vol. 148, pp. 59–71.

6. Cheng C., Zhou Y., Li H., et al. Whole-genome sequencing reveals diverse models of structural variations in esophageal squamous cell carcinoma. Am J Hum Genet., 2016, vol. 98, pp. 256–274.

7. Liu P., Erez A., Nagamani S. C., et al. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell, 2011, vol. 146, pp. 889–903.

8. Chia N. L., Moore S., Hastings R. J. ISCN 2024: Summary of Revisions and New Nomenclature. Cytogenet Genome Res., 2025, vol. 165, pp. 1–8. DOI: 10.1159/000544969.

9. Hastings R., Chia N. ISCN 2024: A review of some of the changes and improvements. European Cytogeneticists Association Newsletter, 2025, vol. 55, pp. 5-9.


Review

For citations:


Markova Zh.G., Shilova N.V. ISCN 2024: A Review of Some Additions and Changes to the Chromosomal Microarray Nomenclature. Medical Genetics. 2026;25(9):75-82. (In Russ.) https://doi.org/10.25557/2073-7998.2026.09.75-82

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