02884nam 22005055 450 991025392470332120200630023919.03-319-54099-810.1007/978-3-319-54099-3(CKB)4340000000061973(MiAaPQ)EBC4901940(DE-He213)978-3-319-54099-3(PPN)203671228(EXLCZ)99434000000006197320170707d2017 u| 0engurcnu||||||||rdacontentrdamediardacarrierHuman Chromosome Atlas Introduction to diagnostics of structural aberrations /by Claudia Behrend, Javad Karimzad Hagh, Parvin Mehdipour, Gesa Schwanitz1st ed. 2017.Cham :Springer International Publishing :Imprint: Springer,2017.1 online resource (205 pages) illustrations3-319-54098-X Includes bibliographical references.Introduction -- Structural chromosome aberrations -- Mutations in non-coding-DNA regions -- Single case presentations -- Mutations in non-coding-DNA regions -- Outlook -- Bibliography.This atlas presents the results of cases of structural chromosome aberrations based on the currently available methods of analysis for different types of abnormality. It particularly focuses on which spectrum should be chosen when combining the different techniques to achieve the best method of diagnosis in individual cases, for example direct preparation of cells and mitoses, short or long-time cell culture, fluorescence in situ hybridization (FISH), analysis of interphases, microarray or DNA sequencing. Generally it has to be taken into account, that the development of new and improved investigation methods is forthcoming. Thus, by improvement of diagnostic possibilities new fields of investigation arise, and special groups of patients with cytogenetic analyses can be re-analysed under new research questions.Human geneticsCell biologyHuman Geneticshttps://scigraph.springernature.com/ontologies/product-market-codes/B12008Cell Biologyhttps://scigraph.springernature.com/ontologies/product-market-codes/L16008Human genetics.Cell biology.Human Genetics.Cell Biology.611.01816Behrend Claudiaauthttp://id.loc.gov/vocabulary/relators/aut973689Karimzad Hagh Javadauthttp://id.loc.gov/vocabulary/relators/autMehdipour Parvinauthttp://id.loc.gov/vocabulary/relators/autSchwanitz Gesaauthttp://id.loc.gov/vocabulary/relators/autBOOK9910253924703321Human Chromosome Atlas2215777UNINA