| Case | Clinical features |
Age (yo) | Sex | CNV | Cytoband | Size (Mb) | Microarray nomenclature | Genes | Origin | LCRs start/stop | LCR identity |
| 1 | GDD | 12 | F | Loss | 22q11.21 | 0.75 | 22q11.21(20,716,902–21,465,662) × 1 | ZNF74, SCARF2, MED15, SNAP29, CRKL, LZTR1, SLC7A4 | Inherited pat | B–D B–D | 99% 99% |
| 2 | GDD | 15 | M | Loss | 22q11.21 | 2.88 | 22q11.21(18,916,842–21,800,797) × 1 | PRODH, DGCR5, DGCR9, DGCR10, DGCR2, DGCR11, DGCR14, GSC2, SLC25A1, CLTCL1, HIRA, MRPL40, UFD1L, CLDN5, SEPT5, GP1BB, TBX1, GNB1L, COMT, ARVCF, DGCR8, DGCR6L, ZNF74, SCARF2, MED15, SNAP29, CRKL, LZTR1, SLC7A4, HIC2 | De novo | A–D A–D | 99% 99% |
| 3 | GDD | 6 | M | Loss | 22q11.21 | 0.27 | 22q11.23q12.1(25,656,237–25,930,479) × 1 | IGLL3P, LRP5L, CRYBB2P1 | De novo | After H | 96% |
| 4 | GDD | 14 | M | Gain | 22q11.21 | 0.34 | 22q11.23q12.1(25,656,237–25,994,326) × 3 | MIR650 | Inherited mat | After H | 96% |
| 5 | GDD | 4 | F | Gain | 22q11.21 | 0.69 | 22q11.22q11.23(22,962,196–23,652,512) × 3 | POM121L1P, GGTLC2, IGLL5, RTDR1, GNAZ, RAB36, BCR, FBXW4P1 | Inherited mat | After H | 96% |
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