a A schematic presentation of the 5q35.2–q35.3 genomic region. NSD1 (at 5q35.3), NOP16 (at 5q35.2), and FAF2 (at 5q35.2) are shown with red underbars. CNV analysis in Patient 1. b XHMM showed de novo deletion at chr5:175511998–177180174. X-axis; genomic position, Y-axis, Z score. c qPCR showed that the deletion occurred de novo. X-axis; targeted genes, Y-axis; copy number. Bars show the mean ± standard error. CNV analysis in Patient 2. d Microarray analysis showed deletion at chr5:175570677–177437651. X-axis; genomic position, Y-axis; log2 ratio of copy number. e qPCR showed that the deletion occurred de novo.