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The findings included micrencephaly, periventricular nodular heterotopia in occipitotemporal lobes, cortical dysgenesis resembling polymicrogyria in dorsolateral frontal lobes, hippocampal malrotation, callosal hypoplasia, superiorly rotated cerebellum with small vermis, and lumbosacral hydromyelia. The abnormal cortex exhibited \u201cfestooned\u201d (undulating) supragranular layers, but no significant fusion of the molecular layer. Deletion mapping demonstrated single copy loss of a contiguous 1p36 terminal region encompassing many important neurodevelopmental genes, among them four\n                    <jats:italic>HES<\/jats:italic>\n                    genes implicated in regulating neural stem cell differentiation, and\n                    <jats:italic>TP73<\/jats:italic>\n                    , a monoallelically expressed gene. Our results suggest that brain and spinal malformations in monosomy 1p36 may be more extensive than previously recognized, and may depend on the parental origin of deleted genes. More broadly, our results suggest that specific genetic disorders may cause distinct forms of cortical dysgenesis.\n                  <\/jats:p>","DOI":"10.1186\/2051-5960-1-45","type":"journal-article","created":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T20:14:47Z","timestamp":1375474487000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Neuropathology of brain and spinal malformations in a case of monosomy 1p36"],"prefix":"10.1186","volume":"1","author":[{"given":"Naoko","family":"Shiba","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ray AM","family":"Daza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa G","family":"Shaffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A James","family":"Barkovich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William B","family":"Dobyns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert F","family":"Hevner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,8,2]]},"reference":[{"key":"40_CR1","doi-asserted-by":"publisher","first-page":"1200","DOI":"10.1086\/375179","volume":"72","author":"HA Heilstedt","year":"2003","unstructured":"Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, Bacino CA, Shapira SK, Shaffer LG: Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. 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