title: Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.
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.
authors.affiliation: Center for Human Genetics, Herestraat 49, 3000 Leuven, Belgium. Joris.Vermeesch@uz.kuleuven.ac.be
authors.forename: Joris R
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: Cindy
authors.initials: C
authors.lastname: Melotte
authors.forename: Guy
authors.initials: G
authors.lastname: Froyen
authors.forename: Steven
authors.initials: S
authors.lastname: Van Vooren
authors.forename: Binita
authors.initials: B
authors.lastname: Dutta
authors.forename: Nicole
authors.initials: N
authors.lastname: Maas
authors.forename: Stefan
authors.initials: S
authors.lastname: Vermeulen
authors.forename: Björn
authors.initials: B
authors.lastname: Menten
authors.forename: Frank
authors.initials: F
authors.lastname: Speleman
authors.forename: Bart
authors.initials: B
authors.lastname: De Moor
authors.forename: Paul
authors.initials: P
authors.lastname: Van Hummelen
authors.forename: Peter
authors.initials: P
authors.lastname: Marynen
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D002460:Cell Line; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D015894:Genome, Human; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D009030:Mosaicism; D009693:Nucleic Acid Hybridization / Q000379:methods*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D011110:Polymorphism, Genetic; D011296:Prenatal Diagnosis / Q000379:methods; D011786:Quality Control; D014314:Trisomy