From: Cytogenomic epileptology
Chromosomal locus/loci | Syndrome/Aberration | References |
---|---|---|
1p36 | 1p36 deletion syndrome | |
1q41q42 | 1q41-q42 deletion syndrome | [34] |
2p16.1p15 | 2p16.1-p15 microduplication syndrome | [35] |
3q29 | 3q29 duplication syndrome | |
4p | Wolf-Hirschhorn syndrome | [38] |
5q14.3 | 5q14.3 Deletion Syndrome | [38] |
6 | 6q microdeletions | [40] |
7q11.23 | Williams-Beuren region duplication syndrome | [41] |
8q21.13-q22.2 | 8q21.13-q22.2 duplication | [42] |
8q24.3 | 8q24.3 duplication | [43] |
9q33q34 | 9q33-q34 microdeletion | |
9q33-q34 microduplication | ||
9q34.11 | 9q34.11 deletions | [47] |
12q22.q23.3 | De novo duplication | [48] |
14q12 | Duplications encompassing FOXG1 | [49] |
14qter | Ring chromosome 14 | |
15q11.1-15q13.3 | Prader-Willi syndrome | [52] |
Angelman syndrome | [53] | |
15q13.3 | 15q13.3 microdeletion syndrome | |
15q14 | 15q14 deletion | [56] |
15q24 | 15q24.1 microdeletion and 15q24.2q24.3 duplication | [57] |
16p13.11 | 16p13.11 deletion | [58] |
17p13.3 | Miller-Dieker Syndrome | [59] |
17q12 | 17q12 duplication | [60] |
18p | 18p deletions | [61] |
19p13.13 | 19p13.13 deletions | [62] |
20 | Ring chromosome 20 | [63] |
22q11.2 | 22q11.2 deletion | [64] |
22q13.3 | 22q13.3 deletion | [65] |
Xq13.1 | Xq13 duplication | [66] |
Xp22.13 | Mosaic CDKL5 deletion (+ inversion) | [67] |
Xq28 | Microdeletion forms of Rett syndrome | [68] |