Cytogenetic notation
The following table summarizes symbols and abbreviations used in cytogenetics:[1][2]
| 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 |
| dim | diminished signal intensity |
| dn | de novo (not inherited) chromosomal abnormality |
| dup | Duplication of a portion of a chromosome |
| enh | enhanced signal intensity |
| 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
- Directionality (molecular biology) for 3' and 5' notation
- locus (genetics) for basic notational system
- International System for Human Cytogenetic Nomenclature
References
- "Cytogenetics Basics | Wisconsin State Laboratory of Hygiene".
- "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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