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. Author manuscript; available in PMC: 2016 Jan 31.
Published in final edited form as: Expert Rev Mol Diagn. 2014 Oct 28;15(2):185–192. doi: 10.1586/14737159.2015.975213

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