Chromosome instability syndrome

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:

Ataxia telangiectasia

Ataxia telangiectasia-like disorder

Bloom syndrome

Fanconi anaemia

Nijmegen breakage syndrome

References

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

v · d · eMetabolic 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

see also DNA replication, DNA repair
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

Categories:
Chromosome instability syndromes

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Chromosome instability syndrome

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