Human Chromosome Nomenclature: An Overview and Definition of Terms

  • Marilyn L. Slovak
  • Aaron Theisen
  • Lisa G. Shaffer


As the field of cytogenetics and molecular genetics evolves, a standardized nomenclature system is critical for describing karyotypes and genomic changes accurately and concisely worldwide. The International System for Human Cytogenetic Nomenclature or ISCN is the communication tool for describing human chromosomes and chromosomal aberrations associated with human disease. This reference has served cytogeneticists since 1960, and through its periodic updates, it continues to provide standardized guidelines for consistency in the descriptive and interpretive reporting of the various chromosome aberrations observed in constitutional and neoplastic disorders. This chapter describes the general principles of the ISCN and offers guidance on writing abnormal cytogenetic results by providing nomenclature examples.


Normal Chromosome Derivative Chromosome Detailed System Male Karyotype Clonal Aberration 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Marilyn L. Slovak
    • 1
  • Aaron Theisen
    • 2
  • Lisa G. Shaffer
    • 3
  1. 1.Cytogenetics Laboratory, Palo Verde Laboratory/Sonora Quest LaboratoriesTempeUSA
  2. 2.Theisen ConsultingSpokaneUSA
  3. 3.Signature Genomic LaboratoriesSpokaneUSA

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