{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T10:21:40Z","timestamp":1774606900327,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,6,17]],"date-time":"2019-06-17T00:00:00Z","timestamp":1560729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004008","name":"Istituto Superiore di Sanit\u00e0","doi-asserted-by":"publisher","award":["PGR00229\u2010PGR00919"],"award-info":[{"award-number":["PGR00229\u2010PGR00919"]}],"id":[{"id":"10.13039\/501100004008","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two distinct genomic disorders have been linked to Xq28\u2010gains, namely Xq28\u2010duplications including <jats:italic>MECP2<\/jats:italic> and Int22h1\/Int22h2\u2010mediated duplications involving <jats:italic>RAB39B<\/jats:italic>. Here, we describe six unrelated patients, five males and one female, with Xq28\u2010gains distal to <jats:italic>MECP2<\/jats:italic> and proximal to the Int22h1\/Int22h2 low copy repeats. Comparison with patients carrying overlapping duplications in the literature defined the <jats:italic>MidXq28\u2010duplication syndrome<\/jats:italic> featuring intellectual disability, language impairment, structural brain malformations, microcephaly, seizures and minor craniofacial features. The duplications overlapped for 108\u2009kb including <jats:italic>FLNA<\/jats:italic>, <jats:italic>RPL10<\/jats:italic> and <jats:italic>GDI1<\/jats:italic> genes, highly expressed in brain and candidates for the neurologic phenotype.<\/jats:p>","DOI":"10.1111\/cge.13565","type":"journal-article","created":{"date-parts":[[2019,5,15]],"date-time":"2019-05-15T07:23:52Z","timestamp":1557905032000},"page":"246-253","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Delineation of <i>MidXq28\u2010duplication syndrome<\/i> distal to <i>MECP2<\/i> and proximal to <i>RAB39B<\/i> genes"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1371-936X","authenticated-orcid":false,"given":"Lorenzo","family":"Sinibaldi","sequence":"first","affiliation":[{"name":"Medical Genetics Unit Bambino Ges\u00f9 Pediatric Hospital IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Parisi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Casa Sollievo della Sofferenza IRCCS San Giovanni Rotondo (FG)  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Lanciotti","sequence":"additional","affiliation":[{"name":"Medical Genetics Residency Programme Tor Vergata University  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4217-184X","authenticated-orcid":false,"given":"Paolo","family":"Fontana","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit A.O.R.N. San Pio  Benevento Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alma","family":"Kuechler","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinikum Essen  Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genevieve","family":"Baujat","sequence":"additional","affiliation":[{"name":"Department of Genetics Necker\u2010Enfants Malades Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Torres","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Casa Sollievo della Sofferenza IRCCS San Giovanni Rotondo (FG)  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Koetting","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinikum Essen  Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Splendiani","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit University of L'Aquila  L'Aquila Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Postorivo","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Policlinico Tor Vergata  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jasmin","family":"Beygo","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinikum Essen  Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco G.","family":"Garaci","sequence":"additional","affiliation":[{"name":"Neuroradiology, Department of Biomedicine and Prevention Tor Vergata University Rome  Rome Italy"},{"name":"San Raffaele Cassino  Cassino Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valerie","family":"Malan","sequence":"additional","affiliation":[{"name":"Department of Genetics Necker\u2010Enfants Malades Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hermann\u2010Josef","family":"L\u00fcdecke","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinikum Essen  Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Guida","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Casa Sollievo della Sofferenza IRCCS San Giovanni Rotondo (FG)  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mandy","family":"Krumbiegel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Erlangen\u2010Nuremberg  Erlangen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fortunato","family":"Lonardo","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit A.O.R.N. 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