| 1p36 | 1p36 deletion syndrome |
| 1q43-q44 | 1q43-q44 deletion syndrome |
| 2p15 | 2p15 deletion syndrome |
| 2q34 | 2q34 deletion syndrome |
| 2q37.1 | 2q37.1 deletion syndrome |
| 2q37 | 2q37 duplication |
| 3q13.31 | 3q13.31 distal deletion syndrome |
| 3q21-q23 | 3q21-q23 deletion syndrome |
| 3q23 | 3q23 duplication syndrome |
| 3q24-q25 | 3q24-q25 deletion syndrome |
| 4p16.3 | 4p16.3 deletion syndrome (Wolf-Hirschhorn) |
| 4p | 4p deletion syndrome |
| 4q32.1-q32.2 | 4q32.1-q32.2 deletion syndrome |
| 5q | 5q deletion syndrome |
| 6q11 | 6q11 deletion syndrome |
| 7q | 7q deletion syndrome |
| 18q | 18q deletion syndrome |
| 9p | 9p deletion syndrome |
| 14q11-q22 | 14q11-q22 deletion syndrome |
| 1 p36 | 1 p36 deletion syndrome |
| 6q11-q14 | 6q11-q14 deletion syndrome |
| 8q12.2-q21.2 | 8q12.1-q21.2 deletion syndrome |
| Xq21 | Xq21 deletion syndrome |
| 1q41-q42 | 1q41-q42 deletion syndrome |
| 6q24-q25 | 6q24-q25 deletion syndrome |
| 3q22-q24 | Dandy-Walker syndrome |
| 18p | 18p deletion syndrome |
| 10q26 | 10q26 deletion syndrome |
| 3pter-p25 | 3pter-p25 deletion syndrome |
| 2p12-p11.2 | 2p12-p11.2 deletion syndrome |
| 5q14.3-q15 | 5q14.3 deletion syndrome |
| 13q14 | 13q14 deletion syndrome |
| 10q23 | 10q22.3-q23.2 deletion syndrome |
| 15q26-qter | Levy-Shanske syndrome |
| 15q26-qter | 15q26-qter deletion syndrome |
| 6pter-p24 | 6pter-p24 deletion syndrome |
| 2q31 | Split-hand/foot malformation 5 |
| Xq27.3-q28 | Xq27.3-q28 duplication syndrome |
| 2q37.1-q37.3 | Holoprosencephaly 6 |
| Xp21 | Xp21 deletion syndrome |
| 5p | Cri du Chat syndrome |
| 11p13-p12 | WAGRO syndrome |
| 4q21 | 4q21 deletion syndrome |
| 17p12-p11.2 | Yuan-Harel-Lupski syndrome |
| 22q11 | Cat-Eye syndrome |
| 11q23 | Jacobsen syndrome |
| 10p14-p13 | DiGeorge syndrome 2 |
| 8q24.11-q24.13 | Langer-Giedion syndrome |
| 2p16.1-p15 | 2p16.1-p15 deletion syndrome |
| 4q32.1-q32.2 | 4q32.1-q32.2 triplication syndrome |
| 16p12.2-p11.2 | 16p12.2-p11.2 deletion syndrome |
| Xp11.23-p11.22 | Xp11.23-p11.22 duplication syndrome |
| 2q31.1 | 2q31.1 duplication syndrome |
| 2q33.1 | 2q33.1 deletion syndrome |
| Xq28 | Xq28 deletion syndrome |
| 22q11.2 | 22q11.2 duplication syndrome |
| 16pter-p13.3 | 16p deletion syndrome |
| 16p13.3 | 16p13.3 deletion syndrome |
| 16p12.2-p11.2 | 16p11.2-p12.2 microduplication syndrome |
| 5q12 | 5q12 deletion syndrome |
| 1p32-p31 | 1p32-p31 deletion syndrome |
| 1p31.3 | 1p31 duplication syndrome |
| 16q22 | 16q22 deletion syndrome |
| 14q22.1-q22.3 | Frias syndrome |
| 15q11 | 15q11-q13 duplication syndrome |
| 6q27 | CHDM |
| 15q14 | 15q14 deletion syndrome |
| 17q12 | 17q12 duplication syndrome |
| 17q12 | 17q12 deletion syndrome |
| 3q29 | 3q29 duplication syndrome |
| 3q29 | 3q29 deletion syndrome |
| 8q22.1 | 8q22.1 duplication syndrome |
| 8q22.1 | 8q22.1 deletion syndrome |
| 15q11.2 | Prader-Willi/Angelman syndrome |
| 21q22.3 | Holoprosencephaly 1 |
| 11p13 | WAGR syndrome |
| 7q11.23 | 7q11.23 deletion syndrome |
| 7q11.23 | 7q11.23 duplication syndrome |
| 2018.11.02 23:00 | Potocki-Shaffer syndrome |
| 15q26.1 | HCD |
| Xq22.3 | Xq22.3 telomeric deletion syndrome |
| 4p16.3 | Wolf-Hirschhorn syndrome |
| 17q21.31 | 17q21.31 duplication syndrome |
| Xp11.3 | Xp11.3 deletion syndrome |
| 3q13.31 | 3q13.31 deletion syndrome |
| 8p23.1 | 8p23.1 deletion syndrome |
| 8p23.1 | 8p23.1 duplication syndrome |
| 12q14 | 12q14 microdeletion syndrome |
| 17q23.1-q23.2 | 17q23.1-q23.2 deletion syndrome |
| 17p11.2 | Potocki-Lupski syndrome |
| 17p11.2 | Smith-Magenis syndrome |
| 17p13.3 | 17p13.3 duplication syndrome |
| 17p13.3 | 17p13.3 deletion syndrome |
| 19q13.11 | 19q13.11 deletion syndrome |
| 2q34-q36 | 2q35 duplication syndrome |
| 15q25 | 15q25 deletion syndrome |
| 22q11.2 | 22q11.2 deletion syndrome |
| 22q11.21 | DiGeorge syndrome |
