{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T00:55:16Z","timestamp":1760316916629,"version":"build-2065373602"},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T00:00:00Z","timestamp":1726099200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["analyticalsciencejournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cell Biochemistry &amp;amp; Function"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>What is the definition of Syndrome? Since the beginning of studies in genetics, certain terminologies have been created and used to define groups of diseases or alterations. With the advancement of knowledge and the emergence of new technologies, the use of basic concepts is being done in a mistaken or often confusing way. Because of this, revisiting and readjusting the old terms becomes imminent. Here, we explore these concepts and their use, through a literature compilation of an already well\u2010defined genetic alteration (16q11.2 microduplication). We bring comparisons in clinical and molecular scope of the alteration itself and its diagnostic methods, to improve the report of cases, rescuing terminologies and their applicability nowadays.<\/jats:p>","DOI":"10.1002\/cbf.4121","type":"journal-article","created":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T11:26:38Z","timestamp":1726140398000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7814-2936","authenticated-orcid":false,"given":"Rafaella","family":"Mergener","sequence":"first","affiliation":[{"name":"Graduate Program in Pathology Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA)  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7420-0721","authenticated-orcid":false,"given":"L\u00edvia Polisseni Cotta","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Graduate Program in Pathology Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA)  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4654-8534","authenticated-orcid":false,"given":"Ana Kalise","family":"B\u00f6ttcher","sequence":"additional","affiliation":[{"name":"Undergraduate Program in Biomedical Science UFCSPA  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5808-8848","authenticated-orcid":false,"given":"Marcela Rodrigues","family":"Nunes","sequence":"additional","affiliation":[{"name":"Graduate Program in Pathology Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA)  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Medical Genetics Resident, UFCSPA\/Irmandade da Santa Casa de Miseric\u00f3rdia de Porto Alegre (ISCMPA)  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7628-4877","authenticated-orcid":false,"given":"Paulo Ricardo Gazzola","family":"Zen","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine Medical Genetics, UFCSPA\/ISCMPA  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,12]]},"reference":[{"key":"e_1_2_6_3_1","first-page":"802","article-title":"Diagnoses, Syndromes, and Diseases: A Knowledge Representation Problem","volume":"2003","author":"Calvo F.","year":"2003","journal-title":"AMIA Annual Symposium Proceedings. 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