{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T10:34:19Z","timestamp":1777113259142,"version":"3.51.4"},"reference-count":30,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,6,19]],"date-time":"2023-06-19T00:00:00Z","timestamp":1687132800000},"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>Partial duplication of the short arm of chromosome 7 is a rare chromosome rearrangement. The phenotype spectrum associated with this rearrangement is extremely variable even if in the last decade the use of high-resolution microarray technology for the investigation of patients carrying this rearrangement allowed for the identification of the 7p22.1 sub-band causative of this phenotype and to recognize the corresponding 7p22.1 microduplication syndrome. We report two unrelated patients that carry a microduplication involving the 7.22.2 sub-band. Unlike 7p22.1 microduplication carriers, both patients only show a neurodevelopmental disorder without malformations. We better characterized the clinical pictures of these two patients providing insight into the clinical phenotype associated with the microduplication of the 7p22.2 sub-band and support for a possible role of this sub-band in the 7p22 microduplication syndrome.<\/jats:p>","DOI":"10.3390\/genes14061292","type":"journal-article","created":{"date-parts":[[2023,6,20]],"date-time":"2023-06-20T01:37:38Z","timestamp":1687225058000},"page":"1292","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["7p22.2 Microduplication: A Pathogenic CNV?"],"prefix":"10.3390","volume":"14","author":[{"given":"Alessia","family":"Bauleo","sequence":"first","affiliation":[{"name":"BIOGENET, Medical and Forensic Genetics Laboratory, 87100 Cosenza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9563-2216","authenticated-orcid":false,"given":"Alberto","family":"Montesanto","sequence":"additional","affiliation":[{"name":"Department of Biology, Ecology and Earth Sciences, University of Calabria, 87036 Rende, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenza","family":"Pace","sequence":"additional","affiliation":[{"name":"BIOGENET, Medical and Forensic Genetics Laboratory, 87100 Cosenza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3891-226X","authenticated-orcid":false,"given":"Francesco","family":"Guarasci","sequence":"additional","affiliation":[{"name":"BIOGENET, Medical and Forensic Genetics Laboratory, 87100 Cosenza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosalbina","family":"Apa","sequence":"additional","affiliation":[{"name":"BIOGENET, Medical and Forensic Genetics Laboratory, 87100 Cosenza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rossella","family":"Brando","sequence":"additional","affiliation":[{"name":"BIOGENET, Medical and Forensic Genetics Laboratory, 87100 Cosenza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"De Stefano","sequence":"additional","affiliation":[{"name":"BIOGENET, Medical and Forensic Genetics Laboratory, 87100 Cosenza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"Sestito","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Science of Health, Magna Graecia University of Catanzaro, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1223-7358","authenticated-orcid":false,"given":"Daniela","family":"Concolino","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Science of Health, Magna Graecia University of Catanzaro, 88100 Catanzaro, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Falcone","sequence":"additional","affiliation":[{"name":"BIOGENET, Medical and Forensic Genetics Laboratory, 87100 Cosenza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/(SICI)1096-8628(19991008)86:4<305::AID-AJMG1>3.0.CO;2-B","article-title":"Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: Implications for critical segment assignment in the 7p duplication syndrome","volume":"86","author":"Cai","year":"1999","journal-title":"Am. 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