Title: Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis
Authors: Vermeesch, Joris ×
Melotte, Cindy
Froyen, Guido
Van Vooren, Steven
Dutta, Binita
Maas, Nicole
Vermeulen, Stefan
Menten, Björn
Speleman, Frank
De Moor, Bart
Van Hummelen, Paul
Marynen, Peter
Fryns, Jean-Pierre
Devriendt, Koenraad #
Issue Date: Mar-2005
Publisher: Histochemical Society
Series Title: Journal of Histochemistry & Cytochemistry vol:53 issue:3 pages:413-422
Abstract: Array CGH (comparative genomic hybridization) enables the identification of chromosomal copy number changes. The availability of clone sets covering the human genome opens the possibility for the widespread use of array CGH for both research and diagnostic purposes. In this manuscript we report on the parameters that were critical for successful implementation of the technology, assess quality criteria, and discuss the potential benefits and pitfalls of the technology for improved pre- and postnatal constitutional genetic diagnosis. We propose to name the genome-wide array CGH "molecular karyotyping," in analogy with conventional karyotyping that uses staining methods to visualize chromosomes.
ISSN: 0022-1554
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Molecular Genetics Section (-)
ESAT - STADIUS, Stadius Centre for Dynamical Systems, Signal Processing and Data Analytics
Human Genome Laboratory
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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