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  Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics

Tonnies, H., Stumm, M., Wegner, R. D., Chudoba, I., Kalscheuer, V., & Neitzel, H. (2001). Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics. Cytogenet Cell Genet, 93(3-4), 188-94. doi:10.1159/000056983.

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Tonnies, H.1, Author
Stumm, M.1, Author
Wegner, R. D.1, Author
Chudoba, I.1, Author
Kalscheuer, V.1, Author
Neitzel, H.1, Author
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1Max Planck Society, ou_persistent13              

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Free keywords: Chromosome Aberrations/*genetics Chromosome Banding Chromosomes, Artificial, Yeast Cytogenetic Analysis/*methods *Genome Humans In Situ Hybridization, Fluorescence Nucleic Acid Hybridization Reproducibility of Results Sensitivity and Specificity Telomere/genetics
 Abstract: Today, conventional cytogenetics (CC) is the main technique in routine genetic diagnostics for the analysis of genotype/phenotype correlations. Additionally, fluorescence in situ hybridization (FISH) has proven to be useful for the characterization of structural chromosome aberrations found in conventional cytogenetics. Comparative genomic hybridization (CGH) is a molecular cytogenetic FISH approach developed for the detection of genomic imbalances with cytogenetic resolution. CGH allows the genome-wide assessment of relative DNA copy number changes using extracted specimen DNA as a probe. We investigated the capacity of CGH in cases referred for conventional cytogenetic diagnostics for the detection of chromosome imbalances. Three different groups of conspicuous karyotypes after CC (intrachromosomal rearrangements, interchromosomal rearrangements, and additional marker chromosomes) in pre- and postnatal diagnostic cases were surveyed by CGH to characterize the underlying imbalances of chromosome segments. All together, we investigated more than 100 cases by CGH and validated the results with other molecular cytogenetic methods. Here we present eight of these cases in order to demonstrate our CGH based strategy to analyze chromosomal de novo rearrangements. CGH provided additional cytogenetic information to complement conventional cytogenetic investigations. Additionally, CGH refined the description of the aberrant chromosome segments allowing us to further characterize the underlying mechanisms involved.

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 Dates: 2001
 Publication Status: Published in print
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 Rev. Type: -
 Identifiers: Other: 11528111
DOI: 10.1159/000056983
ISSN: 0301-0171 (Print) 0301-0171 (Linking)
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Title: Cytogenet Cell Genet
  Alternative Title : Cytogenetics and cell genetics
Source Genre: Journal
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Pages: - Volume / Issue: 93 (3-4) Sequence Number: - Start / End Page: 188 - 94 Identifier: -