{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,23]],"date-time":"2024-09-23T04:02:13Z","timestamp":1727064133654},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,12,20]],"date-time":"2017-12-20T00:00:00Z","timestamp":1513728000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J intellect Disabil Res"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The phenotypical consequence of the heterozygous chromosome 7q11.23 interstitial microdeletion is the Williams\u2013Beuren syndrome, a very well\u2010known genetic multi\u2010systemic disorder. Much less is known about the reverse condition, the heterozygous interstitial microduplication of 7q11.23 region. The first molecular cytogenetic description was published in 2005, and only after several years were the reported patients numerous enough to attempt a description of a common phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>By using a broad multidisciplinary approach, we investigated 12 patients with this rare genetic anomaly. Ten of them harboured the duplication of the classical Williams\u2013Beuren syndrome region and two a slightly larger duplication. Upon a detailed description of the clinical and psychological features, we used electroencephalography and magnetic resonance imaging to explore neurophysiological function and brain structures.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We analysed the clinical, psychological, neuroradiological and neurophysiological features of 12 yet\u2010unpublished individuals affected by this rare genetic anomaly, focusing specifically on the last two aspects. Several structural abnormalities of the central nervous system were detected, like ventriculomegaly, hypotrophic cerebellum, hypotrophic corpus callosum and hypoplastic temporal lobes. Although only one of 12 individuals suffered from seizures during childhood, three others had abnormal electroencephalography findings prominent in the anterior brain regions, without any visible seizures to date.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Taken together, we enlarged the yet\u2010underrepresented cohort in the literature of patients affected by 7q11.23 microduplication syndrome and shed further light on neuroradiological and neurophysiological aspects of this rare genetic syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jir.12457","type":"journal-article","created":{"date-parts":[[2017,12,20]],"date-time":"2017-12-20T07:13:05Z","timestamp":1513753985000},"page":"359-370","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder"],"prefix":"10.1111","volume":"62","author":[{"given":"L.","family":"Castiglia","sequence":"first","affiliation":[{"name":"Oasi Institute for Research on Mental Retardation and Brain  Troina Enna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. A.","family":"Husain","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Universit\u00e4tsklinikum Jena  Jena Thuringia Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Marquardt","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Klinikum Oldenburg  Oldenburg Lower Saxony Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Fink","sequence":"additional","affiliation":[{"name":"Department of Radiology Allgemeines Krankenhaus Celle  Celle Lower Saxony Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Liehr","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Friedrich\u2010Schiller\u2010Universit\u00e4t Jena  Jena Thuringia Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Serino","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuro\u2010Psichiatry ASL CN1  Cuneo Piedmont Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Elia","sequence":"additional","affiliation":[{"name":"Oasi Institute for Research on Mental Retardation and Brain  Troina Enna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. 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