This publication combines and extends the now classic system of human cytogenetic nomenclature prepared by expert committees and published in collaboration with Cytogenetic and Genome Research (formerly: Cytogenetics and Cell Genetics) since 1963.
Revised and finalized by the ISCN Committee and its advisors at a meeting in Vancouver, BC, in December 2004, it updates, corrects and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication. It thus supersedes the previous compilations in ISCN 1985 and its supplement, ISCN 1991, the Guidelines for Cancer Cytogenetics, and ISCN 1995.
What’s new in ISCN 2005?
* the G- and R-banded karyotypes have been replaced by new ones reflecting higher band-level resolutions
* new ideograms at the 300-band and 700-band level have been added
* the in situ hybridization nomenclature has been modernized, simplified, and expanded
* new examples reflecting unique situations are included
* a basic nomenclature for recording array comparative genomic hybridization results is introduced
ISCN 2005 also contains a detachable fold-out of the normal human karyotype, consisting of photographs of G-banded and R-banded chromosomes at the commonly examined 550-band resolution stage and their diagrammatic representations – a useful aid for human cytogeneticists, technicians, and students.
Contents
Historical Introduction
1956–1984
1985–1995
1996–2004
Normal Chromosomes
Introduction
Chromosome Number and Morphology
Non-Banding Techniques
Banding Techniques
X- and Y-Chromatin
Chromosome Band Nomenclature
Identification and Definition of Chromosome Landmarks, Regions, and Bands
Designation of Regions, Bands, and Sub-Bands
High-Resolution Banding
Molecular Basis of Banding
Symbols and Abbreviated Terms
Karyotype Designation
General Principles
Specification of Breakpoints
Designating Structural Chromosome Aberrations by Breakpoints and Band Composition
Short System for Designating Structural Chromosome Aberrations
Two-Break Rearrangements
Three-Break Rearrangements
Four-Break and More Complex Rearrangements
Detailed System for Designating Structural Chromosome Aberrations
Additional Symbols
Designating the Band Composition of a Chromosome
Derivative Chromosomes
Recombinant Chromosomes
Uncertainty in Chromosome or Band Designation
Questionable Identification
Uncertain Breakpoint Localization or Chromosome Number
Alternative Interpretation
Incomplete Karyotype
Order of Chromosome Abnormalities in the Karyotype
Normal Variable Chromosome Features
Variation in Heterochromatic Segments, Satellite Stalks, and Satellites
Variation in Length
Variation in Number and Position
Fragile Sites
Numerical Chromosome Abnormalities
General Principles
Sex Chromosome Abnormalities
Autosomal Abnormalities
Uniparental Disomy
Structural Chromosome Rearrangements
General Principles
Specification of Structural Rearrangements
Additional Material of Unknown Origin
Deletions
Derivative Chromosomes
Dicentric Chromosomes
Neo-centromeres
Duplications
Fission
Fragile Sites
Homogeneously Staining Regions
Insertions
Inversions
Isochromosomes
Marker Chromosomes
Quadruplications
Ring Chromosomes
Telomeric Associations
Translocations
Reciprocal Translocations
Whole-Arm Translocations
Robertsonian Translocations
Jumping Translocations
Tricentric Chromosomes
Triplications
Multiple Copies of Rearranged Chromosomes
Chromosome Breakage
Chromatid Aberrations
Non-Banded Preparations
Banded Preparations
Chromosome Aberrations
Non-Banded Preparations
Banded Preparations
Scoring of Aberrations
Neoplasia
Clones and Clonal Evolution
Definition of a Clone
Clone Size
Mainline
Stemline, Sideline and Clonal Evolution
Composite Karyotype
Unrelated Clones
Modal Number
Constitutional Karyotype
Meiotic Chromosomes
Terminology
Examples of Meiotic Nomenclature
Correlation between Meiotic Chromosomes and Mitotic Banding Patterns
In situ Hybridization
Introduction
List of Symbols and Abbreviations
Prophase/Metaphase in situ Hybridization (ish)
Subtelomeric Metaphase in situ Hybridization
Interphase/Nuclear in situ Hybridization (nuc ish)
Number of Signals
Relative Position of Signals
Single Fusion Probes
Single Fusion with Extra Signal Probes
Dual Fusion Probes
Break-apart Probes
In situ Hybridization on Extended Chromatin/DNA Fibers (fib ish)
Reverse in situ Hybridization (rev ish)
Copy Number Determination Using Probes Derived from Total Genomic DNA
Chromosome Analyses Using Probes Derived from Sorted or Microdissected Chromosomes
Use of dim and enh for Partial Deletions or Partial Duplications of a Locus
Multi-Color Chromosome Painting
Partial Chromosome Paints
Chromosome Comparative Genomic Hybridization (cgh)
Array Comparative Genomic Hybridization (arr cgh)
References
Members of the ISCN Standing Committee and Consultants; Acknowledgements
Appendix
Index