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We identified three unrelated patients with polymicrogyria and duplications of chromosome 2p, defined the smallest region of overlap, and performed gene pathway analysis using Cytoscape. The smallest region of overlap in all three children involved 2p16.1\u2010p16.3. All three children have bilateral perisylvian polymicrogyria (BPP), intrauterine and postnatal growth deficiency, similar dysmorphic features, and poor feeding. Two of the three children had documented intellectual disability. Gene pathway analysis suggested a number of developmentally relevant genes and gene clusters that were over\u2010represented in the critical region. We narrowed a rare locus for polymicrogyria to a region of 2p16.1\u2010p16.3 that contains 33\u201334 genes, 23 of which are expressed in cerebral cortex during human fetal development. Using pathway analysis, we showed that several of the duplicated genes contribute to neurodevelopmental pathways including morphogen, cytokine, hormonal and growth factor signaling, regulation of cell cycle progression, cell morphogenesis, axonal guidance, and neuronal migration. These findings strengthen the evidence for a novel locus associated with polymicrogyria on 2p16.1\u2010p16.3, and comprise the first step in defining the underlying genetic etiology.<\/jats:p>","DOI":"10.1002\/ajmg.a.61342","type":"journal-article","created":{"date-parts":[[2019,10,29]],"date-time":"2019-10-29T08:25:22Z","timestamp":1572337522000},"page":"2343-2356","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Duplication 2p16 is associated with perisylvian polymicrogyria"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0616-9371","authenticated-orcid":false,"given":"Dina","family":"Amrom","sequence":"first","affiliation":[{"name":"Neurogenetics Unit Montreal Neurological Institute and Hospital  Montreal Quebec Canada"},{"name":"Department of Neurology &amp; Neurosurgery McGill University  Montreal Quebec Canada"},{"name":"Department of Neurology, H\u00f4pital Universitaire des Enfants Reine Fabiola (HUDERF) Universit\u00e9 Libre de Bruxelles (ULB)  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annapurna","family":"Poduri","sequence":"additional","affiliation":[{"name":"Division of Epilepsy &amp; 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