A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones |
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Authors: | Susanne Popp Anna Jauch Detlev Schindler Michael R. Speicher Christoph Lengauer Helen Donis-Keller Harold C. Riethman Thomas Cremer |
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Affiliation: | (1) Institut für Humangenetik und Anthropologie der Universität Heidelberg, Im Neuenheimer Feld 328, D-69120 Heidelberg, Germany;(2) Institut für Humangenetik, Biozentrum der Universität Würzburg, Am Hubland, D-97074 Würzburg, Germany;(3) Division of Human Molecular Genetics, Department of Surgery, Washington University School of Medicine, 660 S. Euclid, 63110 St. Louis, MO, USA;(4) The Wistar Institute, 3601 Spruce Street, 19104 Philadelphia, PA, USA |
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Abstract: | The identification of marker chromosomes in clinical and tumor cytogenetics by chromosome banding analysis can create problems. In this study, we present a strategy to define minute chromosomal rearrangements by multicolor fluorescence in situ hybridization (FISH) with whole chromosome painting probes derived from chromosome-specific DNA libraries and Alu-polymerase chain reaction (PCR) products of various region-specific yeast artificial chromosome (YAC) clones. To demonstrate the usefulness of this strategy for the characterization of chromosome rearrangements unidentifiable by banding techniques, an 8p+ marker chromosome with two extra bands present in the karyotype of a child with multiple anomalies, malformations, and severe mental retardation was investigated. A series of seven-color FISH experiments with sets of fluorochrome-labeled DNA library probes from flow-sorted chromosomes demonstrated that the additional segment on 8p+ was derived from chromosome 6. For a more detailed characterization of the marker chromosome, three-color FISH experiments with library probes specific to chromosomes 6 and 8 were performed in combination with newly established telomeric and subtelomeric YAC clones from 6q25, 6p23, and 8p23. These experiments demonstrated a trisomy 6pter6p22 and a monosomy 8pter8p23 in the patient. The present limitations for a broad application of this strategy and its possible improvements are discussed.Dedicated to Professor Dr. U. Wolf on the occasion of his 60th birthday |
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