Human Chromosome Atlas Introduction to diagnostics of structural aberrations

By:

Claudia Behrend

Contributor(s):

Material type: Text

TextPublication details: Genetisch-diagnostisches Labor Praxis für Medizinische Genetik Düsseldorf, Nordrhein-Westfalen Germany Springer International Publishing 2017 Edition: illustratedDescription: 207 pagesISBN:

331954098X
9783319540986

Subject(s):

Summary: 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.

Item type: E-BOOKS

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Item type	Current library	Collection	Status	Barcode
E-BOOKS	MWALIMU NYERERE LEARNING RESOURCES CENTRE-CUHAS BUGANDO	NFIC	-1	EBS10546

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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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