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Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease

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Abstract

Fluorescence in situ hybridisation and comparative genomic hybridisation are technologies firmly established in cytogenetics. These methods complement conventional banding techniques and offer additional clinical and research applications. The present paper has two purposes: (a) to introduce to these molecular cytogenetic techniques and (b) to give some examples of childhood diseases due to chromosomal aberrations.

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Authors and Affiliations

  1. Institut für Humangenetik, Charité, Campus Virchow-Klinikum, Humboldt-Universität, Berlin, Germany, , , , , , DE

    H. Tönnies

  2. Institut für Humangenetik, Universitätsklinikum Magdeburg, Leipziger Straße 44, D-39120 Magdeburg, Germany, e-mail: Markus.Stumm@Medizin.Uni-Magdeburg.de, Tel.:+49-391-67 15344, Fax:+49-391-67 15066, , , , , , DE

    M. Stumm & P. F. Wieacker

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  1. M. Stumm
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  2. H. Tönnies
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  3. P. F. Wieacker
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Received: 21 October 1998 / Accepted: 3 December 1998

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Stumm, M., Tönnies, H. & Wieacker, P. Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease. Eur J Pediatr 158, 531–536 (1999). https://doi.org/10.1007/s004310051140

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  • DOI: https://doi.org/10.1007/s004310051140

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