Table I.
Location | Type of CNV | Psychiatric Disorder(s) | Additional Symptoms | Gene(s) of Interest | Refs |
---|---|---|---|---|---|
1q21.1 | Deletion and duplication | ASD, ID, SZ | Microcephaly (deletion) macrocephaly (duplication) | PRKAB2 | (Torres et al., 2016) |
3q29 | Deletion | ASD, ID, SZ | Speech delay, facial dysmorphisms | DLG1, PAK2 | (Cox and Butler, 2015b, Glassford et al., 2016) |
7q11.2 | Duplication | ASD, ID, SZ | Speech delay | GTF2I | (Somerville et al., 2005, Velleman and Mervis, 2011, Escudero and Johnstone, 2014, Adamo et al., 2015) |
15q11.2 | Deletion | ASD, ID, SZ | Motor and speech delay | CYFIP1 | (Cox and Butler, 2015a) |
15q11.2-13.1 | Duplication | ASD, ID, SZ | Language impairment, facial dysmorphisms | HBII52 (a small nucleolar RNA) | (Nakatani et al., 2009, Stewart et al., 2011, Coppola et al., 2013) |
15q13.3 | Deletion | ASD, ID, SZ | Hypotonia, cardiac defect | CHRNA7 | (Ziats et al., 2016) |
16p11.2 | Duplication | ASD, ID, SZ | Decreased body mass index | DOC2A, TAOK2 | (Arbogast et al., 2016) |
16p13 | Duplication | ASD, ID, SZ | Heart defects | NDE1 | (Kuang et al., 2011, Ramalingam et al., 2011, Kimura et al., 2015, Torres et al., 2016) |
17p12 | Deletion | SZ | Neuropathy | PMP22 | (Kirov et al., 2009, Luigetti et al., 2014) |
17q12 | Deletion | ASD, ID, SZ | Kidney abnormalities | LHX1 | (Moreno-De-Luca et al., 2010, Palumbo et al., 2014, Clissold et al., 2016) |
22q11 | Deletion | ASD, ID, SZ | Congenital defects, facial dysmorphisms | COMT, PRODH | (Bassett and Chow, 2008, Biswas and Furniss, 2016) |
Multiple CNVs with their respective symptoms, characteristics, and corresponding references.