Cytogenetic Nomenclature and Reporting

  • Marian Stevens-KroefEmail author
  • Annet Simons
  • Katrina Rack
  • Rosalind J. Hastings
Part of the Methods in Molecular Biology book series (MIMB, volume 1541)


A standardized nomenclature is critical for the accurate and consistent description of genomic changes as identified by karyotyping, fluorescence in situ hybridization and microarray. The International System for Human Cytogenomic Nomenclature (ISCN) is the central reference for the description of karyotyping, FISH, and microarray results, and provides rules for describing cytogenetic and molecular cytogenetic findings in laboratory reports. These laboratory reports are documents to the referring clinician, and should be clear, accurate and contain all information relevant for good interpretation of the cytogenetic findings. Here, we describe guidelines for cytogenetic nomenclature and laboratory reports for cytogenetic testing applied to tumor samples.

Key words

Karyotyping FISH Microarray Nomenclature Diagnostic reports 


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Copyright information

© Springer Science+Business Media LLC 2017

Authors and Affiliations

  • Marian Stevens-Kroef
    • 1
    Email author
  • Annet Simons
    • 1
  • Katrina Rack
    • 2
  • Rosalind J. Hastings
    • 2
  1. 1.Department of Human GeneticsRadboud University Medical CenterNijmegenThe Netherlands
  2. 2.Cytogenetic External Quality Assessment, Women’s Centre, John Radcliffe HospitalOxford University Hospitals NHS Foundation TrustOxfordUK

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