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UW Cytogenetic Services: Cytogenetic Nomenclature

Basic Nomenclature For Cytogenetics

Abnormalities | Nomenclature

Symbols and Abbreviations:

 , Separates chromosome modal number, sex chromosomes, and chromosome abnormalities
 - Loss of a chromosome
 ( ) Surround structurally altered chromosomes and breakpoints
 + Gain of a chromosome
 ; Separates rearranged chromosomes and breakpoints involving more than one chromosome
/ Separates cell lines or clones
// Separates recipient and donor cell lines in bone marrow transplants
 del Deletion
 der Derivative chromosome (used when only one chromosome from a translocation is present, or when one chromosome has two or more structural abnormalities)
 dic Dicentric chromosome
dn Chromosomal abnormality not inherited from parents (de novo)
 dup Duplication of a portion of a chromosome
 fra Fragile site (usually used with Fragile-X syndrome)
 h Heterochromatic region of chromosome
 i Isochromosome (both arms of the chromosome are the same)
 ins Insertion of a portion of a chromosome
 inv Inversion
 .ish Precedes karyotype results from fluorescence in situ hybridization (FISH) analysis
 mar Marker chromosome (unidentifiable piece of chromosome)
 mat Maternally derived chromosome rearrangement
 p Short arm of a chromosome
 pat Paternally derived chromosome rearrangement
 psu dic Only one centromere is active (pseudo dicentric)
 q Long arm of a chromosome
r Ring chromosome
 t Translocation
 ter Terminal end of arm (i.e. 2qter - end of the long arm of chromosome 2)

 tri
Trisomy
trp Triplication of a portion of a chromosome


General Guidelines:

modal number, sex chrom, abn abbrev (first chrom; second chrom) (arm band number; arm band number)

Ex:

46,XX,t(1;2)(p32;q22)


Definitions:

Modal number: total count of number of chromosomes in each cell of a given cell line

Sex chromosomes: complement of X and Y chromosomes

Band number: numerical description of the location on a chromosome arm, in order from the centromere out to the end of the chromosome. These numbers are a standard determined by the International System for human Cytogenetic Nomenclature (ISCN), revised in 2005.


UW Cytogenetic Services
University of Wisconsin - Madison