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Open Access 01-07-2007 | Review

What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH)

Authors: Thomy J. L. de Ravel, Koen Devriendt, Jean-Pierre Fryns, Joris R. Vermeesch

Published in: European Journal of Pediatrics | Issue 7/2007

Abstract

Molecular karyotyping by array comparative genomic hybridisation (array CGH) has doubled the detection rate of pathogenic chromosomal imbalances in patients. This has been possible by increasing the resolution level from the 5 Mb obtained using the conventional karyotype to as low as 100 kb by array technology. Moreover, the technology revealed that over 12% of the human genome includes sub-microscopic benign copy number variable regions. These new findings have implications in genetic counselling and patient management.

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Title: What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH)
Authors: Thomy J. L. de Ravel
Koen Devriendt
Jean-Pierre Fryns
Joris R. Vermeesch
Publication date: 01-07-2007
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 7/2007
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-007-0463-6

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What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH)

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