Multicolour Banding zur Abklärung intrachromosomaler Aberrationen
Die klinische Genetik beschäftigt sich mit Ursachen und Folgen erblich bedingter Erkrankungen. Im Rahmen einer zytogenetischen Diagnostik ist es daher erstrebenswert, eine möglichst präzise Charakterisierung von Chromosomenaberrationen vorzunehmen, um eine genaue Korrelation zwischen Genotyp und Ph...
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| Format: | Doctoral Thesis |
| Language: | German |
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Philipps-Universität Marburg
2007
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| Online Access: | PDF Full Text |
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In the context of a cytogenetic diagnosis it is worthwhile to make as precise a characterisation of Chromosome aberrations as possible in order to manufacture an exact correlation between Genotype and phenotype. This contributes to the improvement of the possibilities of prognostic statements in the genetic consultation. The method of the Multicolour Bandings (mBAND), for the first time 1999 described, was developed, in order to approximate this requirement. This new method of analysis, based on region-specific partial chromosome paints (RPCPs), is suitable in particular for the clarification of intrachromosomal aberrations and precise point of break regulations.