Figure 5.

DUF1220 Model Linking 1q21.1-1q21.2 Instability, DUF1220-Domain Copy Number, Brain Evolution, and Recurrent Disease

^∗Twelve genomic diseases have been linked to CNVs in the 1q21.1-1q21.1 region. They are listed in Table S1 and include autism, congenital heart disease, congenital anomaly of the kidney and urinary tract, epilepsy, intellectual disability, intermittent explosive disorder, macrocephaly, Mayer-Rokitansky-Küster-Hauser syndrome, microcephaly, neuroblastoma, schizophrenia, and thrombocytopenia-absent-radius syndrome.