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Chromosomeninstabilitätssyndrome

  • Chapter
Molekularmedizinische Grundlagen von hämatologischen Neoplasien

Part of the book series: Molekulare Medizin ((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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  1. Martin Digweed
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  2. Karl Sperling
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  2. Intitut für Zell- und Molekularpathologie, Medizinische Hochschule Hannover, Carl-Neuberg-Straße 1, 30623, Hannover, Deutschland

    Brigitte Schlegelberger

  3. Medizinische Fakultät, Institut für Medizinische Biologie, Universität Wien, Währinger Gürtel 10, A-1090, Wien IX, Österreich

    Christa Fonatsch

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Digweed, M., Sperling, K. (2003). Chromosomeninstabilitätssyndrome. In: Ganten, D., Ruckpaul, K., Schlegelberger, B., Fonatsch, C. (eds) Molekularmedizinische Grundlagen von hämatologischen Neoplasien. Molekulare Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59343-7_1

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