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Array-CGH

Erfahrungen aus Schleswig-Holstein

Array CGH

Experience gained in Schleswig-Holstein

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medizinische genetik

Zusammenfassung

Wir berichten über unsere Erfahrungen mit der Array-comparative-genomic-hybridization(CGH)-Untersuchung über 5 Jahre an 1310 untersuchten Patienten. Mit zunehmender Auflösung der Arrays nimmt die Zahl der detektieren Veränderungen zu, deren Relevanz zum Teil schwer zu beurteilen ist. Die am häufigsten nachgewiesene pathogene Veränderung bei den von uns untersuchten Patienten ist die 0,6 Mb große Deletion bzw. Duplikation in 16p11.2. Befunde, die nicht im Zusammenhang mit der initialen Fragestellung standen, wurden bei 0,2% der Patienten erhoben.

Abstract

We report on our experience with array CGH analysis on 1310 samples over the last 5 years. The number of copy number variants (CNV) rises as the resolution of the arrays increases; however, the relevance of some of these findings is difficult to evaluate. Deletion or duplication in 16p11.2 was the most frequently diagnosed pathogenic CNV. Clinically relevant findings which were not directly connected to the query were observed in about 0.2% of patients.

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Literatur

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Danksagung

Wir danken allen Mitarbeitern im molekulargenetischen Labor und molekularzytogenetischen Labor des Instituts für Humangenetik, Kiel, für ihre Arbeit. Allen Kollegen, die diese Untersuchungen durch die Zusendung von Proben und klinischer Informationen ermöglichten, gilt unser herzlicher Dank.

Hinweis: Aufgrund der Vorgabe, dass das Literaturverzeichnis auf 10 Arbeiten zu beschränken ist, werden Artikel zu Grundlagen oder allgemein geläufigen Syndromen nicht aufgeführt. Wir verweisen ggf. auf entsprechende Übersichten und Bibliographien z. B. über OMIM.

Interessenkonflikt

Der korrespondierende Autor weist für sich und seine Koautoren auf folgende Beziehung(en) hin: RS, SB, IN, JIMS, IV und AC haben im Rahmen von Forschungsprojekten und Beta-Studien Array-Plattformen der Firmen Agilent und Affymetrix getestet.

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Authors and Affiliations

  1. Institut für Humangenetik, Christian-Albrechts-Universität zu Kiel und UKSH, Campus Kiel, Schwanenweg 24, 24105, Kiel, Deutschland

    A. Caliebe, S. Bens, N. Husemeyer, I. Nagel, J.I. Martin-Subero, P. Sporns, H. Tönnies, I. Vater & R. Siebert

  2. Institut für Humangenetik, Universität Lübeck, Lübeck, Deutschland

    K. Platzer, L. Argyriou, Y. Hellenbroich, I. Stefanova & G. Gillessen-Kaesbach

  3. Klinik für Gynäkologie und Geburtshilfe, Christian-Albrechts-Universität zu Kiel und UKSH, Campus Kiel, Kiel, Deutschland

    J. Weimer

Authors
  1. A. Caliebe
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  2. K. Platzer
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  3. L. Argyriou
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  4. S. Bens
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  5. Y. Hellenbroich
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  6. N. Husemeyer
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  7. I. Nagel
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  8. J.I. Martin-Subero
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  9. P. Sporns
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  10. I. Stefanova
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  11. H. Tönnies
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  12. I. Vater
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  13. J. Weimer
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  14. R. Siebert
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  15. G. Gillessen-Kaesbach
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Corresponding author

Correspondence to A. Caliebe.

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Caliebe, A., Platzer, K., Argyriou, L. et al. Array-CGH. medgen 24, 99–107 (2012). https://doi.org/10.1007/s11825-012-0330-3

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  • DOI: https://doi.org/10.1007/s11825-012-0330-3

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