2.2. Subjects and Sample Preparation

We custom-engineered the Illumina Infinium GSA BeadChip (version 2, Illumina, San Diego, CA, USA) to include 742,759 SNP markers capable of detecting 138 CNV-related chromosomal disorders (Figure 1). Procedures for DNA amplification, fragmentation, hybridization, and staining were performed according to the Illumina Infinium HTS assay protocol (Illumina). Image and data files were obtained using the iScan control and Genome Studio software packages (v2.0.4) from Illumina.

Schematic overview of 138 CNV-related chromosomal disorders. Red, blue, and black arrows indicate microdeletions, duplications, and tetrasomy, respectively. Green bars indicate Joubert syndrome types.