Chromosomal trisomy disorders have long been associated with abnormal developmental outcomes (Oster-Granite, 1986). While early studies detected large chromosomal abnormalities via karyotype analysis or fluorescence in situ hybridization (FISH), more recently, genomic approaches have facilitated unbiased identification of microdeletions and microduplications (reviewed in Watson et al., 2014), identifying many that are significantly associated with schizophrenia and bipolar disorder (CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium and Psychosis Endophenotypes International Consortium, 2016, Malhotra et al., 2011). Human induced pluripotent stem cell (hiPSC)-based models are an emerging strategy by which to evaluate the functional effects of such chromosomal aberrations in human neurons.
