{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T03:59:20Z","timestamp":1780545560376,"version":"3.54.1"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,12,9]],"date-time":"2017-12-09T00:00:00Z","timestamp":1512777600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pallister\u2010Killian syndrome (<jats:styled-content style=\"fixed-case\">PKS<\/jats:styled-content>) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe two patients with <jats:styled-content style=\"fixed-case\">PKS<\/jats:styled-content>, one of whom has bilateral perisylvian polymicrogyria (PMG), the other with macrocephaly, enlarged lateral ventricles and hypogenesis of the corpus callosum. We have also summarized the current literature describing brain abnormalities in <jats:styled-content style=\"fixed-case\">PKS<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We reviewed available cases with intracranial scans (<jats:italic>n<\/jats:italic>\u00a0=\u00a093) and found a strong association between <jats:styled-content style=\"fixed-case\">PKS<\/jats:styled-content> and structural brain abnormalities (77.41%; 72\/93). Notably, ventricular abnormalities (45.83%; 33\/72), abnormalities of the corpus callosum (25.00%; 18\/72) and cerebral atrophy (29.17%; 21\/72) were the most frequently reported, while macrocephaly (12.5%; 9\/72) and PMG (4.17%; 3\/72) were less frequent. To further understand how 12p genes might be relevant to brain development, we identified 63 genes which are enriched in the nervous system. These genes display distinct temporal as well as region\u2010specific expression in the brain, suggesting specific roles in neurodevelopment and disease. Finally, we utilized these data to define minimal critical regions on 12p and their constituent genes associated with atrophy, abnormalities of the corpus callosum, and macrocephaly in <jats:styled-content style=\"fixed-case\">PKS<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study reinforces the association between brain abnormalities and <jats:styled-content style=\"fixed-case\">PKS<\/jats:styled-content>, and documents a diverse neurogenetic basis for structural brain abnormalities and impaired function in children diagnosed with this rare disorder.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.351","type":"journal-article","created":{"date-parts":[[2017,12,9]],"date-time":"2017-12-09T05:10:43Z","timestamp":1512796243000},"page":"92-98","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["A review of structural brain abnormalities in Pallister\u2010Killian syndrome"],"prefix":"10.1002","volume":"6","author":[{"given":"Cathryn","family":"Poulton","sequence":"first","affiliation":[{"name":"Department of Neurology Princess Margaret Hospital Subiaco WA Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gareth","family":"Baynam","sequence":"additional","affiliation":[{"name":"Telethon Kids Institute University of Western Australia Perth WA Australia"},{"name":"Genetic Services of Western Australia Perth WA Australia"},{"name":"Office of Population Health Genomics Public Health and Clinical Services Division Department of Health Government of Western Australia Perth WA Australia"},{"name":"School of Paediatrics and Child Health University of Western Australia Perth WA Australia"},{"name":"Institute for Immunology and Infectious Diseases Murdoch University Perth WA Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clarissa","family":"Yates","sequence":"additional","affiliation":[{"name":"Centre 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Laboratory Medicine WA Nedlands WA Australia"},{"name":"School of Biomedical Sciences University of Western Australia Perth WA Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soruba","family":"Sivamoorthy","sequence":"additional","affiliation":[{"name":"PathWest Laboratory Medicine WA Nedlands WA Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Peverall","sequence":"additional","affiliation":[{"name":"PathWest Laboratory Medicine WA Nedlands WA Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Shipman","sequence":"additional","affiliation":[{"name":"Department of Radiology Princess Margaret Hospital Subiaco WA Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Ravine","sequence":"additional","affiliation":[{"name":"PathWest Laboratory Medicine WA Nedlands WA 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