Glossary of Karyotype Report Terms and Definitions
Below is a listing of terms and definitions most commonly used in our chromosome analysis reports.
Clonal:
- Two or more cells with the same extra chromosome.
- Three or more cells with the same missing chromosome.
- Two or more cells with the same structural rearrangement.
- Changes that do not meet the requirements of clonality (typically single-cell findings).
- Can be caused by technical artifact such as chromosomes blowing out from one metaphase spread, and possibly into another.
- Listed on reports to inform that there was a cell with some change seen during analysis but that it did not (and maybe will not) rise to the level of something that will make the karyotype abnormal.
- Presence of two or more cytogenetically distinguishable cell lines.
- Chromosome short arm.
- Chromosome long arm.
- Additional material of unknown origin attached to a chromosome region or band.
- Loss of a chromosome segment.
- Terminal - the distal side of a break is lost
- Interstitial - created by two breaks, where the two broken edges rejoin and the intervening, acentric segment is lost.
- Structurally rearranged chromosome generated either by a rearrangement involving two or more chromosomes or by multiple aberrations within a single chromosome.
- A chromosome that contains two centromeres.
- Gain of a chromosome segment observed at the original chromosome location.
- A single chromosome undergoes breakage and rearrangement within itself, causing a segment of a chromosome to be reversed end to end.
- Pericentric - involves both arms of a chromosome and includes the centromere
- Paracentric - involves only one arm of a chromosome and doe snot include the centromere
- Segment of one chromosome has been deleted from its normal location and inserted into another location.
- Unbalanced structural abnormality in which the arms of the abnormal chromosome are mirror images of each other.
- Structurally abnormal chromosome that cannot be unambiguously identified or characterized by conventional banding cytogenetics.
- Rearrangement of segments between chromosomes.
sl or stemline:
- the most basic clone of a tumor cell population and is listed first
sdl or sideline
- all additional clones deviating from the stemline
idem (latin word for same)
- also used to describe the most basic clone of a tumor cell population
cp or composite
- results based on consistent abnormalities between cells in culture
- the total number of cells in which the clonal changes were observed is given in square brackets
