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Příručka

Cham : Springer, [2017]

viii, 207 stran : ilustrace ; 29 cm

ISBN 978-3-319-54098-6 (vázáno)

ISBN 978-3-319-54099-3 (e-kniha)

Obsahuje bibliografii na straně 207

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..

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Introduction -- Structural chromosome aberrations -- Mutations in non-coding-DNA regions -- Single case presentations -- Mutations in non-coding-DNA regions -- Outlook -- Bibliography.