genomic microarrays
Genome profiling by genomic microarrays is an important diagnostic tool, either in addition to or replacing conventional chromosome banding, depending on the expected diagnostic yield and the costs involved.
Genomic microarray approaches such as array-based comparative genomic hybridization (array GHC or a CGH) have been shown to identify causative submicroscopic copy number alterations in a significant proportion of patients with mental retardation.
These alterations occur throughout the human genome and the majority of these alterations reported thus far are unique. Next to these causative alterations, a large number of inherited submicroscopic copy number variations without immediate clinical consequences have been detected.
See also
SNP microarrays
References
Veltman JA. Genomic microarrays in clinical diagnosis. Curr Opin Pediatr. 2006 Dec;18(6):598-603. PMID: 17099357