Title: Single-cell chromosomal imbalances detection by array CGH
Authors: Le Caignec, Cedric ×
Spits, Claudia
Sermon, Karen
De Rycke, Martine
Thienpont, Bernard
Debrock, Sophie
Staessen, Catherine
Moreau, Yves
Fryns, Jean-Pierre
Van Steirteghem, Andre
Liebaers, Inge
Vermeesch, Joris #
Issue Date: May-2006
Publisher: Oxford University Press
Series Title: Nucleic Acids Research vol:34 issue:9 pages:e68
Abstract: 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.
ISSN: 0305-1048
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Assisted Reproductive Technology Laboratory (-)
ESAT - STADIUS, Stadius Centre for Dynamical Systems, Signal Processing and Data Analytics
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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