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- Title
Array CGH in the routine diagnostic work-up of mental retardation.
- Authors
Heinrich, Uwe; von Voss, Hubertus; Rost, Imma
- Abstract
Array CGH (Comparative Genomic Hybridisation) analysis has become an essential part of the diagnostic workup of mental retardation in children. Using BAC- (Bacterial Artificial Chromosome) array CGH, a follow-up examination on chromosomally inconspicuous children with mental retardation (ns194) revealed in 20 patients (10.4%) a chromosomal imbalance as the cause of retardation. In a small pilot study on ten patients, we were able to demonstrate the benefit of applying a second, oligonucleotide-based array CGH platform as a reliable and rapid validation tool for ambiguous CGH results, in particular, if duplications were suspected (cross validation). Based on our own experience and that of other groups, a stepwise approach for the diagnosis of mental retardation in children involving a combination of BACand oligonucleotide array CGH as well as fluorescence in situ hybridisation (FISH) is recommended.
- Publication
Journal of Laboratory Medicine / Laboratoriums Medizin, 2008, Vol 32, Issue 5, p1
- ISSN
0342-3026
- Publication type
Article
- DOI
10.1515/JLM.2008.048et