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. 2020 Jun 16;11:50. doi: 10.1186/s13229-020-00347-0

Table 1.

List of representative sociability-related CNVs with reported iPSCs-derived neural models

Disease Locus Type of CNV Phenotype Refs
16p11.2 Deletion/Duplication ASD [8789]
15q11.2 Deletion ASD [9092]
Phelan-McDermid Syndrome 22q13.3 Deletion ASD [9396]
Xp22 Deletion ASD [97, 98]
2p16.3 Deletion ASD [99]
15q13.3 Deletion ASD [100]
Kleefstra syndrome 9q34.3 Deletion ASD [101103]
Down Syndrome Chromosome 21 trisomy Duplication Hypersociability [104106]