Cytogenetic notation

The following table summarizes symbols and abbreviations used in cytogenetics:[1][2]

SymbolDescription
,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
delDeletion
derDerivative chromosome
dicDicentric chromosome
dimdiminished signal intensity
dnde novo (not inherited) chromosomal abnormality
dupDuplication of a portion of a chromosome
enhenhanced signal intensity
fraFragile site (usually used with Fragile X syndrome)
hHeterochromatic region of chromosome
iIsochromosome
idic Isodicentric chromosome (duplication & inversion of centromere-containing segment)
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 (e.g. 2qter refers to the end of the long arm of chromosome 2)
triTrisomy
trpTriplication of a portion of a chromosome

See also

References

  1. "Cytogenetics Basics | Wisconsin State Laboratory of Hygiene".
  2. "ISCN rules for listing chromosomal rearrangements". Current Protocols in Human Genetics. Appendix 4: Appendix 4C. May 2001. doi:10.1002/0471142905.hga04cs17. ISBN 978-0471142904. ISSN 1934-8258. PMID 18428230. S2CID 46677230.


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