Cytogenetic notation

Cytogenetic notation

The following table summarizes symbols and abbreviations used in cytogenetics[1]:

Symbol Description
, Separates modal number (total number of chromosomes), sex chromosomes, and chromosome abnormalities
- Loss of a chromosome
( ) Grouping for breakpoints and structurally altered chromosomes
+ 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
dic Dicentric chromosome
dn de novo (not inherited) chromosomal abnormality
dup Duplication of a portion of a chromosome
fra Fragile site (usually used with Fragile X syndrome)
h Heterochromatic region of chromosome
i Isochromosome
ins Insertion
inv Inversion
.ish Precedes karyotype results from FISH analysis
mar Marker chromosome
mat Maternally-derived chromosome rearrangement
p Short arm of a chromosome
pat Paternally-derived chromosome rearrangement
psu dic pseudo dicentric - only one centromere in a Dicentric chromosome is active
q Long arm of a chromosome
r Ring chromosome
t Translocation
ter Terminal end of arm (e.g. 2qter refers to the end of the long arm of chromosome 2)
tri Trisomy
trp Triplication of a portion of a chromosome


See also

  • Chromosome abnormalities

Reference

  1. ^ http://www.slh.wisc.edu/cytogenetics/abnormalities/nomenclature.dot

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