Human Genetics

, Volume 92, Issue 6, pp 527–532

A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones

Authors

  • Susanne Popp
    • Institut für Humangenetik und Anthropologie der Universität Heidelberg
  • Anna Jauch
    • Institut für Humangenetik und Anthropologie der Universität Heidelberg
  • Detlev Schindler
    • Institut für Humangenetik, Biozentrum der Universität Würzburg, Am Hubland
  • Michael R. Speicher
    • Institut für Humangenetik und Anthropologie der Universität Heidelberg
  • Christoph Lengauer
    • Institut für Humangenetik und Anthropologie der Universität Heidelberg
  • Helen Donis-Keller
    • Division of Human Molecular Genetics, Department of SurgeryWashington University School of Medicine
  • Harold C. Riethman
    • The Wistar Institute
  • Thomas Cremer
    • Institut für Humangenetik und Anthropologie der Universität Heidelberg
Original Investigations

DOI: 10.1007/BF00420933

Cite this article as:
Popp, S., Jauch, A., Schindler, D. et al. Hum Genet (1993) 92: 527. doi:10.1007/BF00420933

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 6pter→6p22 and a monosomy 8pter→8p23 in the patient. The present limitations for a broad application of this strategy and its possible improvements are discussed.

Copyright information

© Springer-Verlag 1993