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Selected Publication:
Popp, S; Jauch, A; Schindler, D; Speicher, MR; Lengauer, C; Donis-Keller, H; Riethman, HC; Cremer, T.
A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones.
Hum Genet. 1993; 92(6):527-532
Doi: 10.1007/BF00420933
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- Co-authors Med Uni Graz
- Speicher Michael
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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 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Abnormalities, Multiple - genetics
- Child - genetics
- Chromosome Aberrations - genetics
- Chromosome Disorders - genetics
- Chromosomes, Artificial, Yeast - genetics
- Chromosomes, Human, Pair 6 - genetics
- Chromosomes, Human, Pair 8 - genetics
- Clone Cells - genetics
- DNA - genetics
- DNA Probes - genetics
- Female - genetics
- Gene Library - genetics
- Gene Rearrangement - genetics
- Humans - genetics
- In Situ Hybridization, Fluorescence - methods
- Male - methods
- Monosomy - methods
- Trisomy - methods