Chromothripsis

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A cytogenetic abnormality characterized by the occurrence of a large number of chromosomal rearrangements that are restricted to sites in one or a few chromosomes. Chromothripsis may result from a single catastrophic event that causes multiple double-strand breaks, which are subsequently repaired or reassembled by error-prone DNA repair pathways or through aberrant DNA replication mechanisms.