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Neuentdeckte strukturelle Chromosomenabberationen bei altbekannten Syndromen, Assoziationen und Sequenzen

Prader-Willi-Syndrom, Miller-Dieker-Syndrom, Giedion-Langer-Syndrom, Aniridie-Wilms-Tumor-Assoziation, DiGeorge-Sequenz, Wiedemann-Beckwith-Syndrom
  • A. Schinzel
Part of the Ergebnisse der Inneren Medizin und Kinderheilkunde/Advances in Internal Medicine and Pediatrics book series (KINDERHEILK. NF, volume 57)

Zusammenfassung

In einer ersten Phase der klinischen Zytogenetik wurden in den 60er Jahren mit Hilfe der ungebänderten Karyogramme die meisten numerischen und einige wenige strukturelle Chromosomenaberrationen entdeckt. Die weitere Entwicklung in den 70er Jahren ist gekennzeichnet durch die Einführung der Bänderungstechniken zur Chromosomendarstellung. Mit diesen Färbungsmethoden ließ sich eine sehr große Zahl vornehmlich struktureller Aberrationen erkennen, und die Zahl nachweisbarer Chromosomenaberrationen stieg in die Hunderte an. Die Untersuchungen an den langgestreckten Prometaphasechromosomen erfuhren in den 80er Jahren eine weitere Verbesserung, die eine höhere Auflösung der Bandmuster ermöglichte und es dadurch erlaubte, einige diskrete Chromosomenaberrationen sichtbar zu machen, die in einer Routineuntersuchung nicht entdeckt werden. Die meisten dieser Aberrationen wurden anhand von zytogenetisch ungewöhnlichen Fällen entdeckt, und erst sekundär, als man wußte, welche diskrete Aberration man mit welchen Mitteln suchen mußte, wurde die Mehrzahl der Aberrationen entdeckt. Einige dieser neu entdeckten diskreten Aberrationen sind — mehr oder weniger konstant — mit spezifischen klinischen Syndromen, Assoziationen oder Sequenzen assoziiert, welche, analog zum Down- und Turner- Syndrom, schon lange vor der Entdeckung der Chromosomenaberration bekannt waren. Von diesen soll im folgenden die Rede sein. Wir definieren dabei ein Syndrom als eine Kombination von Dysmorphien und Fehlbildungen, die zwar ätiologisch, aber nicht pathogenetisch auf eine Ursache zurückzuführen sind, während sich eine Sequenz pathogenetisch auf eine Ursache zurückführen läßt. Unter einer Assoziation wird eine überzufällig häufig vorkommende Kombination von zwei oder mehreren Fehlbildungen verstanden, deren Ätiologie unklar ist und die pathogenetisch voneinander unabhängig entstehen.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • A. Schinzel
    • 1
  1. 1.Institut für Medizinische GenetikUniversität ZürichZürichSwitzerland

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