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Table 1 List of representative sociability-related CNVs with reported iPSCs-derived neural models

From: The sociability spectrum: evidence from reciprocal genetic copy number variations

Disease

Locus

Type of CNV

Phenotype

Refs

 

16p11.2

Deletion/Duplication

ASD

[88,89,90]

 

15q11.2

Deletion

ASD

[91,92,93]

Phelan-McDermid Syndrome

22q13.3

Deletion

ASD

[94,95,96,97]

 

Xp22

Deletion

ASD

[98, 99]

 

2p16.3

Deletion

ASD

[100]

 

15q13.3

Deletion

ASD

[101]

Kleefstra syndrome

9q34.3

Deletion

ASD

[102,103,104]

Down Syndrome

Chromosome 21 trisomy

Duplication

Hypersociability

[105,106,107]