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Chromosomeninstabilitätssyndrome

  • Martin Digweed
  • Karl Sperling
Part of the Molekulare Medizin book series (MOLMED)

Zusammenfassung

Unabhängig voneinander haben Schröder (1964) und German (1965) festgestellt, dass eine erhöhte Rate somatischer Chromosomenveränderungen ein charakteristisches Merkmal zweier autosomal-rezessiver Krankheiten darstellt, der Fanconi-Anämie (FA) bzw. des Bloom-Syndroms (BS). Heute ist dieses „Symptom“namensgebend für eine Gruppe von Erkrankungen, zu denen als wichtigste noch die Ataxia teleangiectatica (AT) und das Nijmegenbreakage-Syndrom (NBS) zählen. Hinzu kommen das Werner- und das Rothmund-Thomson-Syndrom, die so genannte AT-ähnliche Erkrankung (ATLD; Mre11-Defizienz). Als Begleitsymptom wurde eine erhöhte spontane bzw. induzierte Chromosomeninstabilität auch für eine Reihe weiterer Krankheiten beschrieben, wie z.B. die Ligase-I- und -IV-Defizienz sowie die Dyskeratosis congenita. Die Zahl dieser Erkrankungen wird weiter zunehmen, wie bereits aus theoretischen Überlegungen (s. unten) zu folgern ist.

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© Springer-Verlag Berlin Heidelberg 2003

Authors and Affiliations

  • Martin Digweed
  • Karl Sperling

There are no affiliations available

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