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Table 2 list of Microdeletion and microduplication syndromes investigated in this study.

From: "Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes

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