MATERIALS AND METHODS
High-resolution chromosome analysis was performed on 20 metaphases on
PHA-stimulated cultured lymphocytes using the standard GTG (G-banding
using trypsin and Giemsa) banding protocol. CMA analysis was performed
on genomic DNA extracted from peripheral blood using the Applied
Biosystems CytoScan HD array platform (ThermoFisher Scientific,
Carlsbad, CA) consisting of 1,953,246 unique non-polymorphic copy-number
probes and 743,304 single nucleotide polymorphism probes spanning the
whole genome. CytoScan array CEL files were processed and visualized
with the Chromosome Analysis Suite (ChAS) 3.3 version software
(ThermoFisher Scientific, Carlsbad, CA) The copy number variants (CNVs)
were analyzed and reported using the NCBI human genome build 37.1
(GRCh37/hg19).