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 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.
Vermeesch
Joris R
JR
Center for Human Genetics, Herestraat 49, 3000 Leuven, Belgium. Joris.Vermeesch@uz.kuleuven.ac.be
Melotte
Cindy
C
Froyen
Guy
G
Van Vooren
Steven
S
Dutta
Binita
B
Maas
Nicole
N
Vermeulen
Stefan
S
Menten
Björn
B
Speleman
Frank
F
De Moor
Bart
B
Van Hummelen
Paul
P
Marynen
Peter
P
Fryns
Jean-Pierre
JP
Devriendt
Koen
K
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