chromothripsis
Pronunciation: KROH-moh-trip-sis
A catastrophic chromosomal rearrangement event where localized chromosome shattering and random reassembly occurs in a single cellular crisis.
Full Definition
Chromothripsis is a phenomenon of massive local chromosome shattering followed by random reassembly, typically affecting one or a few chromosomes in a single catastrophic event. This process can generate complex genomic rearrangements including deletions, duplications, inversions, and translocations clustered in specific chromosomal regions. In cancer genomics reporting, chromothripsis patterns are identified through characteristic oscillating copy number profiles and require specialized analysis algorithms. The term literally means 'chromosome shattering' and represents a distinct mechanism of genomic instability from gradual accumulation of mutations.
Usage
Usage note: Always italicize when first mentioned; ensure distinction from other chromosomal instability mechanisms.
In Context
- "The genomic report identified a chromothripsis event on chromosome 17p involving the TP53 locus." — Molecular pathology report
- "Complex rearrangements consistent with chromothripsis were observed in 15% of the analyzed tumor samples." — Research publication