Molecular Karyotyping: Array CGH Quality Criteria for Constitutional Genetic Diagnosis

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 t...

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Bibliographic Details
Published in:The journal of histochemistry and cytochemistry 2005-03, Vol.53 (3), p.413-422
Main Authors: Vermeesch, Joris R, Melotte, Cindy, Froyen, Guy, Van Vooren, Steven, Dutta, Binita, Maas, Nicole, Vermeulen, Stefan, Menten, Bjorn, Speleman, Frank, De Moor, Bart, Van Hummelen, Paul, Marynen, Peter, Fryns, Jean-Pierre, Devriendt, Koen
Format: Article
Language:English
Subjects:
Cell Line
Chromosome Aberrations
Chromosomes, Human, Pair 13
Genome, Human
Humans
Karyotyping - methods
Mosaicism
Nucleic Acid Hybridization - methods
Oligonucleotide Array Sequence Analysis - methods
Polymorphism, Genetic
Prenatal Diagnosis - methods
Quality Control
Trisomy
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Summary: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
1551-5044
DOI:10.1369/jhc.4A6436.2005