Gendos-array upptäcker även små kromosomförändringar. Ger fler barn med utvecklingsavvikelse en etiologisk diagnos
Sammanfattning
Developmental delay, autism spectrum disorders and/ or multiple congenital malformations affect about 2% of all newborns. Extensive clinical investigations can determine the cause of these disorders in less than 50%. Different genetic mechanisms are the cause of most of the cases with a known etiology. Hence, it was assumed that an important fraction of the cases of unknown cause had a genetic origin. Recently, analysis of copy number variants (CNV) was introduced for diagnosis of microdeletions and microduplications of patients with developmental disorders. This has revealed that a significant fraction of cases with these disorders have a submicroscopic copy number alteration causing the disorder. The use of CNV testing in a clinical setting is reviewed using clinical examples where the diagnosis was set by this new technology.