{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T23:03:24Z","timestamp":1780614204214,"version":"3.54.1"},"reference-count":0,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"03","funder":[{"DOI":"10.13039\/501100004263","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado do Rio Grande do Sul","doi-asserted-by":"crossref","award":["17\/2551-0001063-9"],"award-info":[{"award-number":["17\/2551-0001063-9"]}],"id":[{"id":"10.13039\/501100004263","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Programa de Extens\u00e3o Universit\u00e1ria do Minist\u00e9rio da Educa\u00e7\u00e3o e Cultura"},{"name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior (CAPES)\/Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","award":["301834\/2016-4"],"award-info":[{"award-number":["301834\/2016-4"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Oculoauriculovertebral spectrum (OAVS) is a rare class of heterogenous congenital craniofacial malformation conditions of unknown etiology. Although classic OAVS has been described as hemifacial microsomia with facial asymmetry and microtia, there is no consensus regarding clinical criteria for diagnosis or genetic cause. This systematic review aims to assess the applicability of high-resolution (HR) karyotype, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification (MLPA), and microarray-based comparative genomic hybridization (array-CGH) for differential diagnosis of OAVS. A search was performed in PubMed and Web of Science using all entry terms to the following descriptors: Goldenhar's syndrome, cytogenetic analysis, hybridization in situ, fluorescent, comparative genomic hybridization, multiplex polymerase chain reaction, whole genome sequencing, and karyotype analysis methods. After screening, 25 articles met eligibility. Of the included studies, 59 individuals had a genetic alteration identified. Array-CGH, MLPA, and HR karyotype appear to be viable approaches for molecular diagnosis in OAVS. Heterogeneity is a hallmark of OAVS. Establishing an enhanced framework for diagnosis would inform clinical decision making, and better resource utilization could improve health care facility efficiency and economy.<\/jats:p>","DOI":"10.1055\/s-0040-1712118","type":"journal-article","created":{"date-parts":[[2020,5,27]],"date-time":"2020-05-27T20:53:11Z","timestamp":1590612791000},"page":"149-157","source":"Crossref","is-referenced-by-count":8,"title":["Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review"],"prefix":"10.53391","volume":"09","author":[{"given":"Andressa Barreto","family":"Glaeser","sequence":"additional","affiliation":[{"name":"Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruna Lixinski","family":"Diniz","sequence":"additional","affiliation":[{"name":"Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desir\u00e9e","family":"Deconte","sequence":"additional","affiliation":[{"name":"Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andressa Schneiders","family":"Santos","sequence":"additional","affiliation":[{"name":"Undergraduate Program in Biomedicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael Fabiano Machado","family":"Rosa","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Clinical Genetics, Irmandade Santa Casa de Miseric\u00f3rdia de Porto Alegre, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7628-4877","authenticated-orcid":false,"given":"Paulo Ricardo Gazzola","family":"Zen","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Clinical Genetics, Irmandade Santa Casa de Miseric\u00f3rdia de Porto Alegre, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre, Porto Alegre, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2020,5,27]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1712118.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:42Z","timestamp":1758138342000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1712118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,27]]},"references-count":0,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2020,7,22]]},"published-print":{"date-parts":[[2020,9]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1712118","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,27]]}}}