Confirmation of abnormal array findings were carried out by fluorescence in situ hybridization (FISH), quantitative PCR (qPCR), standard G-banded chromosome analysis, multiplex ligation-dependent probe amplification (MLPA) or a second array analysis, depending on the size of the observed CNV. Since the great majority of pathogenic changes were confirmed by an independent method, the genotypic data quality is extremely high, providing a large dataset with high fidelity. Parental studies by FISH, qPCR, MLPA or array analysis were conducted to determine the inheritance in a subset of cases where parental samples were referred for follow-up testing. To the best of our knowledge, results from testing of parental and siblings’ samples were excluded from the final dataset if they showed the same genomic imbalance as the proband.
