{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:07:25Z","timestamp":1760144845584,"version":"build-2065373602"},"reference-count":0,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T00:00:00Z","timestamp":1716422400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Institute for Maternal and Child Health-IRCCS \u201cBurlo Garofolo\u201d\u2014Trieste","award":["RC 17\/23"],"award-info":[{"award-number":["RC 17\/23"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Given the crucial role of the personalized management and treatment of hearing loss (HL), etiological investigations are performed early on, and genetic analysis significantly contributes to the determination of most syndromic and nonsyndromic HL cases. Knowing hundreds of syndromic associations with HL, little comprehensive data about HL in genomic disorders due to microdeletion or microduplications of contiguous genes is available. Together with the description of a new patient with a novel 3.7 Mb deletion of the Xq21 critical locus, we propose an unreported literature review about clinical findings in patients and their family members with Xq21 deletion syndrome. We finally propose a comprehensive review of HL in contiguous gene syndromes in order to confirm the role of cytogenomic microarray analysis to investigate the etiology of unexplained HL.<\/jats:p>","DOI":"10.3390\/genes15060677","type":"journal-article","created":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T03:46:56Z","timestamp":1716522416000},"page":"677","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8024-0482","authenticated-orcid":false,"given":"Maria Teresa","family":"Bonati","sequence":"first","affiliation":[{"name":"Institute for Maternal and Child Health\u2014Institute for Maternal and Child Health \u201cBurlo Garofolo\u201d, 34137 Trieste, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4187-6282","authenticated-orcid":false,"given":"Agnese","family":"Feresin","sequence":"additional","affiliation":[{"name":"Independent Researcher, 33059 Fiumicello Villa Vicentina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Prontera","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, S. Maria della Misericordia Hospital, 06129 Perugia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Michieletto","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health\u2014Institute for Maternal and Child Health \u201cBurlo Garofolo\u201d, 34137 Trieste, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4875-1201","authenticated-orcid":false,"given":"Valeria","family":"Gambacorta","sequence":"additional","affiliation":[{"name":"Department of Medicine and Surgery, Section of Otorhinolaryngology, University of Perugia, 06129 Perugia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giampietro","family":"Ricci","sequence":"additional","affiliation":[{"name":"Department of Medicine and Surgery, Section of Otorhinolaryngology, University of Perugia, 06129 Perugia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7465-1066","authenticated-orcid":false,"given":"Eva","family":"Orzan","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health\u2014Institute for Maternal and Child Health \u201cBurlo Garofolo\u201d, 34137 Trieste, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,23]]},"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/15\/6\/677\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:47:38Z","timestamp":1760107658000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/15\/6\/677"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,23]]},"references-count":0,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,6]]}},"alternative-id":["genes15060677"],"URL":"https:\/\/doi.org\/10.3390\/genes15060677","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2024,5,23]]}}}