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DOI: 10.1369/jhc.4A6436.2005
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Journal of Histochemistry and Cytochemistry
Volume 53 (3): 413-422, 2005
Copyright ©The Histochemical Society, Inc.

Molecular Karyotyping : Array CGH Quality Criteria for Constitutional Genetic Diagnosis

Joris R. Vermeesch, Cindy Melotte, Guy Froyen, Steven Van Vooren, Binita Dutta, Nicole Maas, Stefan Vermeulen, Björn Menten, Frank Speleman, Bart De Moor, Paul Van Hummelen, Peter Marynen, Jean-Pierre Fryns and Koen Devriendt

Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium (JRV,CM,NM,J-PF,KD); Center for Human Genetics, Flanders Interuniversity Institute for Biotechnology (VIB4), Department of Human Genetics (GF,PM), MicroArray Facility, Flanders Interuniversity Institute for Biotechnology (VIB) (BD,PVH), Leuven, Belgium; ESAT-SISTA K.U. Leuven (SVV,BDM), Leuven, Belgium; and Department of Medical Genetics, Ghent University, Ghent, Belgium (SV,BM,FS)

Correspondence to: J.R. Vermeesch, Center for Human Genetics, Herestraat 49, 3000 Leuven, Belgium. E-mail: Joris.Vermeesch{at}uz.kuleuven.ac.be

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. (J Histochem Cytochem 53:413–422, 2005)

Key Words: array CGH • molecular karyotyping • constitutional cytogenetics • prenatal diagnosis • postnatal diagnosis


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