Table 2 list of Microdeletion and microduplication syndromes investigated in this study.
Number | Microdeletion and microduplication syndromes | Genes |
|---|---|---|
1 | DiGeorge syndrome 22q11 | CLDN5, AB-region GP1BB, AB-region SNAP29, CD-region |
2 | DiGeorge region 2, 10p15 | GATA3 Hs.538604 |
3 | Williams syndrome | ELN, exon 1 ELN, exon 20 LIMK1 |
4 | Prader-Willi/Angelman | NDN SNRPN UBE3A |
5 | Cri du Chat syndrome, 5p15 | TERT CRR9 |
6 | Rubinstein-Taybi syndrome | CREBBP |
7 | Smith-Magenis syndrome | RAI1 LRRC48 LLGL1 |
8 | Miller-Dieker syndrome, 17p | PAFAH1B1, ex 7 PAFAH1B1, ex 3 |
9 | Langer-Giedion syndrome, 8q | TRPS1 EIF3S3 |
10 | Sotos syndrome 5q35.3 | NSD1, exon 17 NSD1, exon 22 |
11 | NF1 microdeletion syndrome | NF1, exon 12 NF1, exon 20 |
12 | Wolf-Hirschhorn 4p16.3 | LETM1 WHSC1 |
13 | WAGR syndrome | PAX6, exon 5 |
14 | RETT syndrome, MECP2/Xq28 duplication | MECP2, exon 1 MECP2, exon 4 |
15 | Phelan-Mcdermid syndrome (22q13) | SHANK3 |
16 | 1p36 deletion syndrome | TNFRSF4 GNB1 GABRD |
17 | 2p16.1 microdeletion syndrome | FANCL REL |
18 | 3q29 microdeletion syndrome | DLG1 |
19 | 9q22.3 microdeletion syndrome | TGFBR1 exon 7 TGFBR1 exon 8 |
20 | 15q24 microdeletion syndrome | SEMA7A exon 8 CYP1A1 exon 2 |
21 | 17q21.31 microdeletion syndrome | CRHR1, exon 8 MAPT, exon 11 MAPT, exon 13 |