These included well characterised syndrome regions eg Di-George (OMIM 188400), Williams (OMIM 194050) and Miller-Dieker syndrome (OMIM 247200) regions as well as smaller imbalances with imbalance of critical genes eg PAFAH1B1 (OMIM 601545) and HCCS (OMIM 300056) genes. This evidence concerns the gene PAFAH1B1 and Miller-Dieker syndrome.