{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T02:37:20Z","timestamp":1773196640847,"version":"3.50.1"},"reference-count":42,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T00:00:00Z","timestamp":1588896000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Copy number variations (CNVs) play a key role in the pathogenesis of several diseases, including a wide range of neurodevelopmental disorders. Here, we describe the detection of three CNVs simultaneously in a female patient with evidence of severe myoclonic epilepsy, microcephaly, hypertelorism, dimorphisms as well as severe psychomotor delay and intellectual disability. Array-CGH analysis revealed a ~240 kb microdeletion at the 7q35 inherited from her father, a \u223c538 kb microduplication at the 15q13.3 region and a \u223c178 kb microduplication at Xp22.33 region, both transmitted from her mother. The microdeletion in 7q35 was included within an intragenic region of the contactin associated protein-like 2 (CNTNAP2) gene, whereas the microduplications at 15q13.3 and Xp22.33 involved the cholinergic receptor nicotinic \u03b1 7 subunit (CHRNA7) and the cytokine receptor-like factor 2 (CRLF2) genes, respectively. Here, we describe a female patient harbouring three CNVs whose additive contribution could be responsible for her clinical phenotypes.<\/jats:p>","DOI":"10.3390\/genes11050525","type":"journal-article","created":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T11:26:00Z","timestamp":1588937160000},"page":"525","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0916-8101","authenticated-orcid":false,"given":"Francesco","family":"Paduano","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, University \u201cMagna Graecia\u201d, 88100 Catanzaro, Italy"},{"name":"Tecnologica Research Institute and Marrelli Health, Biomedical Section, Stem Cells Unit, 88900 Crotone, Italy"},{"name":"Department of Experimental and Clinical Medicine, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, Localit\u00e0 Germaneto, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma","family":"Colao","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, University \u201cMagna Graecia\u201d, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8837-3519","authenticated-orcid":false,"given":"Sara","family":"Loddo","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, Bambino Ges\u00f9 Pediatric Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4596-4036","authenticated-orcid":false,"given":"Valeria","family":"Orlando","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, Bambino Ges\u00f9 Pediatric Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Trapasso","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, University \u201cMagna Graecia\u201d, 88100 Catanzaro, Italy"},{"name":"Department of Experimental and Clinical Medicine, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, Localit\u00e0 Germaneto, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, Bambino Ges\u00f9 Pediatric Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicola","family":"Perrotti","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, University \u201cMagna Graecia\u201d, 88100 Catanzaro, Italy"},{"name":"Department of Health Sciences, University \u201cMagna Graecia\u201d, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8524-7402","authenticated-orcid":false,"given":"Rodolfo","family":"Iuliano","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, University \u201cMagna Graecia\u201d, 88100 Catanzaro, Italy"},{"name":"Department of Health Sciences, University \u201cMagna Graecia\u201d, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,5,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.conb.2017.12.004","article-title":"CNV biology in neurodevelopmental disorders","volume":"48","author":"Takumi","year":"2018","journal-title":"Curr. 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