Chromosome instability syndromes
Tomaszewska, A.; Srebniak, M.łg.; Gnyś, A.
Polski Merkuriusz Lekarski Organ Polskiego Towarzystwa Lekarskiego 20(119): 577-581
2006
ISSN/ISBN: 1426-9686 PMID: 16875167 Document Number: 602277
Defects of DNA repair underlie genetic syndromes. Chromosomal aberrations and mutations might cause specific inborn defects. There are several syndromes with characteristic clinical features, which appear to be caused by chromosome instability which is a consequence of DNA repair defects. This article describe syndromes where hereditary mutations are the reason of chromosomal instability and cause serious clinical results: ataxia-telangiectasia, Nijmegen breakage syndrome, Bloom syndrome, Fanconi's anemia, ICF syndrome, Roberts syndrome, dominantly inherited--PCD, Werner syndrome, xeroderma pigmentosum, Cockayne syndrome, trichothiodystrophy (TTD) and Rothmund-Thomson syndrome (RTS).