[Chromosome instability syndromes].

Abstract

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).

• Authors: Agnieszka Tomaszewska, Małgorzata Srebniak, Agnieszka Gnyś
• Journal: Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego (Pol Merkur Lekarski) Vol. 20 Issue 119 Pg. 577-81 (May 2006) ISSN: 1426-9686 [Print] Poland
• Vernacular Title: Choroby zwiazane z wrodzona niestabilnościa chromosomów.
• PMID: 16875167 (Publication Type: English Abstract, Journal Article, Review)

Topics

• DNA Repair-Deficiency Disorders (classification, diagnosis, genetics)
• Humans