Cytogenetic notation


The following table summarizes symbols and abbreviations used in cytogenetics:
SymbolDescription
,Separates modal number, 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
delDeletion
derDerivative chromosome
dicDicentric chromosome
dimdiminished signal intensity
dnde novo chromosomal abnormality
dupDuplication of a portion of a chromosome
enhenhanced signal intensity
fraFragile site
hHeterochromatic region of chromosome
iIsochromosome
insInsertion
invInversion
.ishPrecedes karyotype results from FISH analysis
marMarker chromosome
matMaternally-derived chromosome rearrangement
pShort arm of a chromosome
patPaternally-derived chromosome rearrangement
psu dicpseudo dicentric - only one centromere in a Dicentric chromosome is active
qLong arm of a chromosome
rRing chromosome
tTranslocation
terTerminal end of arm
triTrisomy
trpTriplication of a portion of a chromosome