[Chromosome analysis/cytogenetic analysis in neoplasms and hereditary diseases].
The development of human cytogenetics has gained momentum during the past 20 years and many chromosome aberrations have been described to be specifically associated with more than 60 constitutional syndromes and more than 27,000 acquired neoplastic diseases. Chromosome analysis has in later years been further refined by the application of fluorescent in situ hybridisation technologies which enables the detection of genetic rearrangements, depending on the method employed down to single gene levels. Chromosome analysis is not only important in the diagnostic situation, but even more so in the prognostication of a wide range of diseases and especially with regard to malignant diseases in the follow-up to monitor treatment response. In addition, cytogenetics play an important role for unravelling the biology of neoplastic disease and the addition of relevant fluorescent in situ hybridisation and chip technologies will contribute with important information on pathogenetic mechanisms of both constitutional and acquired disease states.
Kerndrup
Gitte Birk
GB
Odense Universitetshospital, Patologisk Institut.
Kjeldsen
Eigil
E
D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D020732:Cytogenetic Analysis; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics*