Chromosome instability syndrome

Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage. They often lead to an increased tendency to develop certain types of malignancies.^[1]

The following chromosome instability syndromes are known:

References

↑ Taylor AM (2001). "Chromosome instability syndromes". Best Pract Res Clin Haematol. 14 (3): 631–44. doi:10.1053/beha.2001.0158. PMID 11640873.

Metabolic disease: DNA replication and DNA repair-deficiency disorder

DNA replication

Separation/initiation: RNASEH2A
- Aicardi–Goutières syndrome 4

Termination/telomerase: DKC1
- Dyskeratosis congenita

DNA repair

Nucleotide excision repair	Cockayne syndrome/DeSanctis–Cacchione syndrome Thymine dimer Xeroderma pigmentosum IBIDS syndrome

MSI/DNA mismatch repair	Hereditary nonpolyposis colorectal cancer Muir–Torre syndrome Mismatch repair cancer syndrome

MRN complex	Ataxia telangiectasia Nijmegen breakage syndrome

Other	RecQ helicase Bloom syndrome Werner syndrome Rothmund–Thomson syndrome/Rapadilino syndrome Fanconi anemia Li-Fraumeni syndrome Severe combined immunodeficiency

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