- Chromosome instability syndrome
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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.
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 Cockayne syndrome/DeSanctis–Cacchione syndrome · Thymine dimer (Xeroderma pigmentosum) · IBIDS syndromeOtherRecQ helicase (Bloom syndrome, Werner syndrome, Rothmund–Thomson syndrome/Rapadilino syndrome) · Fanconi anemia · Li-Fraumeni syndrome · Severe combined immunodeficiencysee 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), trfkCategories:- Chromosome instability syndromes
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