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  Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation

Engels, H., Ehrbrecht, A., Zahn, S., Bosse, K., Vrolijk, H., White, S., et al. (2003). Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation. European Journal of Human Genetics, 11(9), 643-651.

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Genre: Journal Article
Alternative Title : Eur. J. Hum. Genet.

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 Creators:
Engels, Hartmut, Author
Ehrbrecht, Antje, Author
Zahn, Susanne, Author
Bosse, Kristin, Author
Vrolijk, Hans, Author
White, Stefan, Author
Kalscheuer, Vera1, Author           
Hoovers, Jan M. N., Author
Schwanitz, Gesa, Author
Propping, Peter, Author
Tanke, Hans J., Author
Wiegant, Joop, Author
Raap, Anton K., Author
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: multicolour FISH; subtelomeric chromosome regions; cryptic chromosome aberration
 Abstract: Cryptic subtelomeric chromosome rearrangements play an important role in the aetiology of mental retardation, congenital anomalies, miscarriages and neoplasia. To facilitate a comprehensive molecular-cytogenetic analysis of these extremely gene-rich and mutation-prone chromosome regions, novel multicolour fluorescence in situ hybridisation (FISH) techniques are being developed. As yet, subtelomeric FISH methods have either had limited multiplicities, making it necessary to perform many hybridisations per patient, or a limited scope of analysable chromosome mutation types, thus not detecting some aberration types such as pericentric inversions or very small aberrations. COBRA (COmbined Binary RAtio) labelling is a generic multicolour FISH technique that combines ratio and combinatorial labelling to attain especially high multiplicities with few fluorochromes. The Subtelomere COBRA FISH method ('S-COBRA FISH') described here detects efficiently all 41 BAC and PAC FISH probes necessary for a complete subtelomere screening in only two hybridisations. It was applied to the analysis of 10 cases with known and partially known aberrations and successfully detected balanced and unbalanced translocations, deletions and an unbalanced pericentric inversion in a mosaic situation. The ability of S-COBRA FISH to efficiently detect all types of balanced and unbalanced subtelomeric chromosome aberrations makes it the most comprehensive diagnostic procedure for human subtelomeric chromosome regions described to date.

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Language(s): eng - English
 Dates: 2003-09
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 126750
ISI: 000185075800004
 Degree: -

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Title: European Journal of Human Genetics
  Alternative Title : Eur. J. Hum. Genet.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 11 (9) Sequence Number: - Start / End Page: 643 - 651 Identifier: ISSN: 1018-4813