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Trait

Chromosome breakage

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.

HPO HP:0040012

Summary

Also called
High frequency of chromosome breaks in lymphocytes, Increased chromosomal breakage, Increased chromosomal breakage rate, Multiple chromosomal breaks, Tendency to chromosomal breakage
Body system
Abnormal cellular phenotypeLaboratory abnormality

8 genes linked to Chromosome breakage

Changes in these genes cause rare conditions in which Chromosome breakage is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
ERCC4ERCC excision repair 4, endonuclease catalytic subunitAlwaysIn 1 condition
FANCLFA complementation group LAlwaysIn 1 condition
NBNnibrinAlwaysIn 1 condition
RAD51CRAD51 paralog CAlwaysIn 1 condition
XRCC2X-ray repair cross complementing 2AlwaysIn 1 condition
BLMBLM RecQ like helicaseNot recordedIn 1 condition
BRCA1BRCA1 DNA repair associatedNot recordedIn 1 condition
MCM4minichromosome maintenance complex component 4Not recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Narrower traits

Broader traits

Abnormality of chromosome stability

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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