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Nucleic Acids Research 2006 34(9):e68; doi:10.1093/nar/gkl336
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Published online 12 May 2006

© The Author 2006. Published by Oxford University Press. All rights reserved
The online version of this article has been published under an open access model. Users are entitled to use, reproduce, disseminate, or display the open access version of this article for non-commercial purposes provided that: the original authorship is properly and fully attributed; the Journal and Oxford University Press are attributed as the original place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. For commercial re-use, please contact journals.permissions@oxfordjournals.org

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Single-cell chromosomal imbalances detection by array CGH

Cedric Le Caignec1,2, Claudia Spits2, Karen Sermon2, Martine De Rycke2, Bernard Thienpont1, Sophie Debrock4, Catherine Staessen2, Yves Moreau3, Jean-Pierre Fryns1, Andre Van Steirteghem2, Inge Liebaers2 and Joris R. Vermeesch1,*

1 Center for Human Genetics, University Hospital Gasthuisberg Leuven, Belgium 2 Research Centre Reproduction and Genetics, University Hospital and Medical School, Vrije Universiteit Brussel Brussels, Belgium 3 ESAT-SISTA K.U. Leuven, Leuven, Belgium 4 Leuven University Fertility Center, University Hospital Gasthuisberg Leuven, Belgium

*To whom correspondence should be addressed. Tel: +32 1634 5941; Fax: +32 1634 6060; Email: Joris.Vermeesch{at}uz.kuleuven.ac.be

Received February 20, 2006. Revised March 22, 2006. Accepted April 15, 2006.

Genomic imbalances are a major cause of constitutional and acquired disorders. Therefore, aneuploidy screening has become the cornerstone of preimplantation, prenatal and postnatal genetic diagnosis, as well as a routine aspect of the diagnostic workup of many acquired disorders. Recently, array comparative genomic hybridization (array CGH) has been introduced as a rapid and high-resolution method for the detection of both benign and disease-causing genomic copy-number variations. Until now, array CGH has been performed using a significant quantity of DNA derived from a pool of cells. Here, we present an array CGH method that accurately detects chromosomal imbalances from a single lymphoblast, fibroblast and blastomere within a single day. Trisomy 13, 18, 21 and monosomy X, as well as normal ploidy levels of all other chromosomes, were accurately determined from single fibroblasts. Moreover, we showed that a segmental deletion as small as 34 Mb could be detected. Finally, we demonstrated the possibility to detect aneuploidies in single blastomeres derived from preimplantation embryos. This technique offers new possibilities for genetic analysis of single cells in general and opens the route towards aneuploidy screening and detection of unbalanced translocations in preimplantation embryos in particular.


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