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

References

  1. http://www.slh.wisc.edu/clinical/cytogenetics/basics/


This article is issued from Wikipedia - version of the Tuesday, July 08, 2014. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.