Molecular karyotyping by means of array CGH: linking gene dosage alterations to disease phenotypes

Array-based comparative genomic hybridization (CGH) builds upon previously well-established CGH procedures (2, 3) using differentially labeled test and reference DNAs to be co-hybridized to cloned genomic fragments with known physical locations, in a microarray format (4, 5). In comparison with conventional CGH, the array format provides a higher resolution, a higher dynamic range, and better possibilities for automation. In addition, it allows for direct linking of copy number alterations to known genomic sequences.