Rare diseases · Sign or symptom

Chromosome breakage

HP:0040012

What it means

Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.

Part of the broader category

Also called: High frequency of chromosome breaks in lymphocytes · Increased chromosomal breakage · Increased chromosomal breakage rate · Multiple chromosomal breaks · Tendency to chromosomal breakage

Chromosome breakage

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This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.