Array-CGH in Childhood MDS

  • Marcel Tauscher
  • Inka Praulich
  • Doris SteinemannEmail author
Part of the Methods in Molecular Biology book series (MIMB, volume 973)


To study genomic imbalances potentially involved in disease development and/or progression of childhood MDS, array-based comparative genomic hybridization (aCGH) is a helpful tool. Copy number alterations (CNA) of subtle chromosomal regions containing potential candidate genes, e.g., TP53 or RUNX1 can be detected. However, characterizing small and/or heterogeneous tumor subpopulations by high-resolution aCGH within a majority of normal cells is a challenge in MDS and requires validation by independent methods like FISH or quantitative PCR. For the identification of tumor-relevant CNA, the analysis of DNA isolated from purified granulocytes or myeloid populations instead of DNA from whole bone marrow (BM) cells is helpful to overcome some of these limitations.

Key words

Copy number alterations Copy number variation Childhood MDS Array-CGH Monosomy 7 TP53 



The authors are grateful to Prof. Brigitte Schlegelberger and Gillian Teicke for critically reading the manuscript and to Dr. Gudrun Göhring for providing the karyogram.


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Copyright information

© Springer Science+Business Media, LLC 2013

Authors and Affiliations

  • Marcel Tauscher
    • 1
  • Inka Praulich
    • 1
  • Doris Steinemann
    • 1
    Email author
  1. 1.Institute of Cell and Molecular Pathology, Hannover Medical SchoolHannoverGermany

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