Dosage sensitive genes identified through microdeletion and/or duplication mapping strategies
| Syndrome | Chromosome | Size | Gene(s) involved | MIM | Reference |
| Cystinuria with mitochondrial disease | del(2)(p16) | 179 kb | SLC3A1, PPM1B, KIAA0436 | 606407 | Parvari et al90 |
| Adrenal hyperplasia with hypermobility | del(6)(p21) | 33 kb | TNBX, CYP21A | – | Koppens et al91 |
| CHARGE syndrome | del(8)(q12) | 2300 kb | CHD7 | 214800 | Vissers et al64 |
| Oto-facial-cercival syndrome | del(8)(q13.3) | 316 kb | EYA1 | 166780 | Rickard et al92 |
| 9q subtelomeric deletion syndrome | del(9)(q34) | Diverse | EHMT1 | 610253 | Kleefstra et al72 |
| Potocki-Shaffer syndrome | del(11)(p11.2) | 2100 kb | EXT2, ALX4 | 601224 | Potocki et al93 |
| Infantile hyperinsulinism enteropathy and deafness | del(11)(p15p14) | 122 kb | USH1C, ABCC8, KCNJ11 | 606528 | Bitner-Glindzicz et al94 |
| 12q14 microdeletion syndrome | del(12)(q14) | 3440 kb | LEMD3, HMGA2, GRIP1 | – | Menten et al95 |
| Peters Plus syndrome | del(13)q12.3q13.1) | 1500 kb | B3GALTL | 261540 | Lesnik Oberstein et al96 |
| Tuberous sclerosis polycystic kidney disease | del(16)(p13) | 87 kb | TSC2, PKD1 | 173900 | Brook-Carter et al97 |
| Potocki–Lupski syndrome | dup(17)(p11.2p11.2) | 3700 kb | RAI1 | 610883 | Potcoki et al98 |
| Alport leiomyomatosis | del(X)(q22.3) | 133 kb | COL4A5, COL4A6 | 301050 | Zhou et al99 |
| MECP2 duplication syndrome | dup(X)(q28) | Variable | MECP2 | – | Van Esch et al100 |