{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T13:04:20Z","timestamp":1769519060165,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T00:00:00Z","timestamp":1658188800000},"content-version":"vor","delay-in-days":48,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the association, not previously described, between trisomy 20\/ monosomy 18 and congenital bilateral perisylvian syndrome (CBPS), a condition featuring intellectual disability, epilepsy, oro\u2010motor dysfunction and bilateral perisylvian polymicrogyria (BPP) in a 29\u2010year\u2010old individual. Detailed clinical evaluation, long\u2010term EEG and EEG analysis by means of electrical source imaging (ESI), 3T MRI and array\u2010CGH were performed. Clinical examination showed moderate\/severe intellectual disability, dysmorphic features, oro\u2010motor dysfunction, short stature, abnormal hands and feet, bradykinesia and abnormal posture. The patient had suffered from drug\u2010resistant epilepsy since infancy. Brain MRI showed that BPP was consistent with CBPS. Additional imaging features revealed corpus callosum and cerebellar hypoplasia and fusion of the C1\u2010C2 vertebrae. Ictal EEG and ESI documented tonic seizures originating from the right polymicrogyric cortex. Facial gestalt included dysmorphic features reported in patients with 18\u2010 and 20+ chromosomal rearrangements. Array\u2010CGH showed an unbalanced translocation, arr(18p)x1(20p)x3. In conclusion, we provide a detailed electro\u2010clinical and MRI description of a novel condition characterized by the association between trisomy 20p\/monosomy 18p and CBPS, also illustrating its clinical evolution into adulthood. This information may help paediatricians, neurologists and geneticists to better counsel families about the developmental prognosis of this rare unbalanced chromosomal rearrangement.<\/jats:p>","DOI":"10.1684\/epd.2022.1423","type":"journal-article","created":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T07:19:37Z","timestamp":1656659977000},"page":"577-582","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Trisomy 20p\/monosomy 18p associated with congenital bilateral perisylvian syndrome"],"prefix":"10.1002","volume":"24","author":[{"given":"Claudia M.","family":"Bonardi","sequence":"first","affiliation":[{"name":"Danish Epilepsy Center Dianalund Denmark"},{"name":"Padua University Hospital, Department of Woman's and Child's Health Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan","family":"Bayat","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Center Dianalund Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camilla G\u2298bel","family":"Madsen","sequence":"additional","affiliation":[{"name":"Centre for Functional and Diagnostic Imaging and Research Hvidovre Hospital 2650 Hvidovre Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trine B.","family":"Hammer","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Center Dianalund Denmark"},{"name":"Clinical Genetic Department Copenhagen University Hospital Rigshospitalet Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Reale","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Center Dianalund Denmark"},{"name":"Department of Clinical and Experimental Medicine University of Messina Messina Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Gardella","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Center Dianalund Denmark"},{"name":"Department of Regional Health Research University of Southern Denmark Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dragan","family":"Marjanovic","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Center Dianalund Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandor","family":"Beniczky","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Center Dianalund Denmark"},{"name":"Department of Clinical Neurophysiology Aarhus University Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rikke S.","family":"M\u2298ller","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Center Dianalund Denmark"},{"name":"Department of Regional Health Research University of Southern Denmark Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guido","family":"Rubboli","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Center Dianalund Denmark"},{"name":"Institute of Clinical Medicine University of Copenhagen Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq078"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(93)90363-L"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/braincomms\/fcaa221"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31260"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31704"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440314"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10243"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20060"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00225197"},{"issue":"4","key":"e_1_2_6_11_1","first-page":"247","article-title":"Trisomy 20p from maternal translocation and anencephaly. 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