Table 1. Example common recurrent pathogenic CNVs associated with GDD/ID [15].
1q21.1 deletion syndrome | 16p11.3 duplication syndrome |
3q29 deletion syndrome | 22q11.2 microduplication syndrome |
15q13.3 deletion syndrome | Xq28 duplication syndrome |
16p11.2 deletion syndrome | Angelman syndrome |
1q21.1 duplication syndrome | DiGeorge/Velocardiofacial syndrome |
3q29 duplication syndrome | Potocki-Lupski syndrome |
7q11.23 duplication syndrome | Prader-Willi syndrome |
15q11-q13 duplication syndrome | Smith-Magenis syndrome |
15q13.13 duplication syndrome | Williams-Beuren syndrome |