Array comparative hybridization (array-CGH) for detection of gene dose alterations in VACTERL association [4x180k Array v.031035]

The aim of the study was to screen for pathogenic gene dose alterations in patients and fetal cases with VACTERL association using a 180K oligonucleotide microarray. The experiment was performed by hybridization of genomic DNA from patients, labelled with Cy3 fluorophore, with a mix of DNA from healthy sex-matched controls labelled with Cy5 fluorophore (fetal case FC17 was analysed with sex-mismatch for the control DNA). 36 patients/fetal cases were analyzed using a Oxford Gene Technology (OGT) 180K oligonucleotide platform with whole genome coverage (27 patients were analyzed on version 025990 and 9 patients on version 031035). The raw microarray image files were initially analyzed using the Feature Extraction software from Agilent Technologies. Further data analysis was performed using the CytoSure Interpret software from OGT.