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

References

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