title: Genetic diseases associated with DNA and chromosomal instability.
abstract: Diseases associated with DNA and chromosomal instability, along with their underlying etiopathologic mechanisms, are among the most complex and poorly understood of any group of disorders known. Their pathogenesis is almost certainly intimately related to the most fundamental processes of life itself: the maintenance, replication, and expression of the genome. Include is a discussion of xeroderma pigmentosum, ataxia-telangiectasia. Cockayne's syndrome, Fanconi's anemia, retinoblastoma, and neurodegenerative diseases.
mesh_terms: D001260:Ataxia Telangiectasia / Q000235:genetics; D001816:Bloom Syndrome / Q000235:genetics; D002869:Chromosome Aberrations; D003057:Cockayne Syndrome / Q000235:genetics; D004247:DNA / Q000235:genetics*; D004260:DNA Repair; D005134:Eye Neoplasms / Q000235:genetics; D005199:Fanconi Anemia / Q000235:genetics; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D012175:Retinoblastoma / Q000235:genetics; D014983:Xeroderma Pigmentosum / Q000235:genetics
chemical_list: D004247:DNA