{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T16:25:06Z","timestamp":1773159906654,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,11,20]],"date-time":"2020-11-20T00:00:00Z","timestamp":1605830400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["001"],"award-info":[{"award-number":["001"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>The aim of this study was to perform 22q11.2 deletion screening and chromosomal microarray analysis (CMA) in individuals clinically diagnosed with craniofacial microsomia (CFM) and review previously published cases of CFM with genomic imbalances. It included 54 individuals who were evaluated by a clinical geneticist. Copy number variants (CNVs) in the 22q11.2 region were investigated by multiplex ligation\u2010dependent probe amplification (MLPA) for all individuals. The CMA was performed only for individuals with additional major features. MLPA revealed pathogenic CNVs at the 22q11 region in 3\/54 (5.6%) individuals. CMA revealed pathogenic CNVs in 4\/17 (23.5%) individuals, including the three CNVs at the 22q11 region also detected by MLPA, and CNVs classified as variants of unknown significance (VOUS) in 4\/17 (23.5%) individuals. Pathogenic alterations were found at the 2p12, 5p15, 13q13, and 22q11 regions. VOUS were found at 3q29, 5q22.2, 5q22.1, and 9p22 regions. All individuals with pathogenic alterations presented additional major features, including congenital heart disease (CHD). The literature review revealed pathogenic CNVs in 17\/193 (8.8%) individuals and most of them also presented additional major features, such as CHD, renal anomalies, or developmental delay. In conclusion, CNVs should be investigated in patients with CFM and additional major features.<\/jats:p>","DOI":"10.1002\/ajmg.c.31857","type":"journal-article","created":{"date-parts":[[2020,11,20]],"date-time":"2020-11-20T20:12:04Z","timestamp":1605903124000},"page":"970-985","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Genomic imbalances in craniofacial microsomia"],"prefix":"10.1002","volume":"184","author":[{"given":"Samira","family":"Spineli\u2010Silva","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine School of Medical Sciences, State University of Campinas (Unicamp)  Campinas Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7253-7830","authenticated-orcid":false,"given":"Il\u00e1ria C.","family":"Sgardioli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine School of Medical Sciences, State University of Campinas (Unicamp)  Campinas Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana P.","family":"dos Santos","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine School of Medical Sciences, State University of Campinas (Unicamp)  Campinas Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luna L.","family":"Bergamini","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Federal University of Alagoas (UFAL)  Macei\u00f3 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabella L.","family":"Monlle\u00f3","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Federal University of Alagoas (UFAL)  Macei\u00f3 Brazil"},{"name":"Clinical Genetics Service University Hospital, Federal University of Alagoas (UFAL)  Macei\u00f3 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marshall I. B.","family":"Fontes","sequence":"additional","affiliation":[{"name":"Clinical Genetics Service University Hospital, Federal University of Alagoas (UFAL)  Macei\u00f3 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8401-6821","authenticated-orcid":false,"given":"T\u00eamis M.","family":"F\u00e9lix","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Clinical Hospital of Porto Alegre (HCPA)  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erlane M.","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital Infantil Albert Sabin (HIAS)  Fortaleza Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana C.","family":"Xavier","sequence":"additional","affiliation":[{"name":"Centre for Research and Rehabilitation of Lip and Palate Lesions Centrinho Prefeito Luiz Gomes  Joinville Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Lustosa\u2010Mendes","sequence":"additional","affiliation":[{"name":"Assistance Centre for Cleft Lip and Palate \u2013 CAIF\u2010AFISSUR  Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1288-0554","authenticated-orcid":false,"given":"Vera L.","family":"Gil\u2010da\u2010Silva\u2010Lopes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine School of Medical Sciences, State University of Campinas (Unicamp)  Campinas Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4027-8341","authenticated-orcid":false,"given":"Tarsis P.","family":"Vieira","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Genomic Medicine School of Medical Sciences, State University of Campinas (Unicamp)  Campinas Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,11,20]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32479"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36007"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102476"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.07.003"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13005-016-0109-x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12519-017-0048-z"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38576"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.11.006"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32447"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000444228"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/jir.12615"},{"key":"e_1_2_8_13_1","volume-title":"EUROCAT Guide 1.4: Instruction for the registration of congenital anomalies.","author":"European Surveillance of Congenital Anomalies (EUROCAT)","year":"2013"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-013-0150-4"},{"key":"e_1_2_8_15_1","first-page":"243","article-title":"Associations malformatives de l'oeil et l'oreille, en particulier le syndrome dermoide epibulbaire\u2010appendices auriculaires\u2010fistula auris congenita et ses relations avec la dysostose mandibulo\u2010faciale","volume":"1","author":"Goldenhar M.","year":"1952","journal-title":"Journal de G\u00e9n\u00e9tique Humaine"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36951"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182217a3a"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33119"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-103774"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-017-0407-4"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36231"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36279"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32950"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1597\/14-308"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35895"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/ocr.12259"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33491"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.12.013"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34051"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35918"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13811"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22076"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328331dda5"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32359"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0096788"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31857","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.c.31857","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31857","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,12]],"date-time":"2024-11-12T14:57:18Z","timestamp":1731423438000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31857"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,20]]},"references-count":35,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1002\/ajmg.c.31857"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31857","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,20]]},"assertion":[{"value":"2020-10-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}