{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T08:12:01Z","timestamp":1758960721073,"version":"3.37.3"},"reference-count":31,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,8,23]],"date-time":"2018-08-23T00:00:00Z","timestamp":1534982400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000867","name":"Robert Wood Johnson Foundation","doi-asserted-by":"publisher","award":["72429"],"award-info":[{"award-number":["72429"]}],"id":[{"id":"10.13039\/100000867","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["DE\u2010016148","DE\u201008559","DE022378"],"award-info":[{"award-number":["DE\u2010016148","DE\u201008559","DE022378"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Orofacial clefts are the most common malformations of the head and neck region. Genetic and environmental factors have been implicated in the etiology of these traits.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We recently conducted genotyping of individuals from the African population using the multiethnic genotyping array (<jats:styled-content style=\"fixed-case\">MEGA<\/jats:styled-content>) to identify common genetic variation associated with nonsyndromic orofacial clefts. The data cleaning of this dataset\u00a0allowed for screening of annotated sex versus genetic sex, confirmation of identify by descent and identification of large chromosomal anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified the first reported orofacial cleft case associated with paternal uniparental disomy (pat<jats:styled-content style=\"fixed-case\">UPD<\/jats:styled-content>) on chromosome 22. We also identified a <jats:italic>de novo<\/jats:italic> deletion on chromosome 18. In addition to chromosomal anomalies, we identified cases with molecular karyotypes suggesting Klinefelter syndrome, Turner syndrome and Triple X syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Observations from our study support the need for genetic testing when clinically indicated in order to exclude chromosomal anomalies associated with clefting. The identification of these chromosomal anomalies and sex aneuploidies is important in genetic counseling for families that are at risk. Clinicians should share any identified genetic findings and place them in context for the families during routine clinical visits and evaluations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.459","type":"journal-article","created":{"date-parts":[[2018,8,24]],"date-time":"2018-08-24T04:28:37Z","timestamp":1535084917000},"page":"924-932","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of paternal uniparental disomy on chromosome 22 and a <i>de novo<\/i> deletion on chromosome 18 in individuals with orofacial clefts"],"prefix":"10.1002","volume":"6","author":[{"given":"Ganiyu O.","family":"Oseni","sequence":"first","affiliation":[{"name":"Department of Plastic Surgery Ladoke Akintola University of Science and Technology Osogbo Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deepti","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Biostatistics Genetic Coordinating Center University of Washington Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter A.","family":"Mossey","sequence":"additional","affiliation":[{"name":"Department of Orthodontics University of Dundee Dundee UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamara D.","family":"Busch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Iowa City Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0080-9101","authenticated-orcid":false,"given":"Lord J.J.","family":"Gowans","sequence":"additional","affiliation":[{"name":"Kwame Nkrumah University of Science and Technology Kumasi Ghana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mekonen A.","family":"Eshete","sequence":"additional","affiliation":[{"name":"School of Public Health Addis Ababa University Addis Ababa Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0257-7853","authenticated-orcid":false,"given":"Wasiu L.","family":"Adeyemo","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery University of Lagos Lagos Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecelia A.","family":"Laurie","sequence":"additional","affiliation":[{"name":"Department of Biostatistics Genetic Coordinating Center University of Washington Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathy C.","family":"Laurie","sequence":"additional","affiliation":[{"name":"Department of Biostatistics Genetic Coordinating Center University of Washington Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arwa","family":"Owais","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry University of Iowa Iowa City Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter B.","family":"Olaitan","sequence":"additional","affiliation":[{"name":"Department of Plastic Surgery Ladoke Akintola University of Science and Technology Osogbo Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Babatunde S.","family":"Aregbesola","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery Obafemi Awolowo University Ile Ife Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fadekemi O.","family":"Oginni","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery Obafemi Awolowo University Ile Ife Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saidu A.","family":"Bello","sequence":"additional","affiliation":[{"name":"State House Clinic Abuja Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Donkor","sequence":"additional","affiliation":[{"name":"Kwame Nkrumah University of Science and Technology Kumasi Ghana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosemary","family":"Audu","sequence":"additional","affiliation":[{"name":"Department of Virology Nigerian Institute of Medical Research Lagos Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chika","family":"Onwuamah","sequence":"additional","affiliation":[{"name":"Department of Virology Nigerian Institute of Medical Research Lagos Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Solomon","family":"Obiri\u2010Yeboah","sequence":"additional","affiliation":[{"name":"Kwame Nkrumah University of Science and Technology Kumasi Ghana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gyikua","family":"Plange\u2010Rhule","sequence":"additional","affiliation":[{"name":"Kwame Nkrumah University of Science and Technology Kumasi Ghana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olugbenga M.","family":"Ogunlewe","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery University of Lagos Lagos Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olutayo","family":"James","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery University of Lagos Lagos Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taiye","family":"Halilu","sequence":"additional","affiliation":[{"name":"School of Public Health Addis Ababa University Addis Ababa Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Firke","family":"Abate","sequence":"additional","affiliation":[{"name":"School of Public Health Addis Ababa University Addis Ababa Ethiopia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lukman O.","family":"Abdur\u2010Rahman","sequence":"additional","affiliation":[{"name":"Division of Pediatric Surgery Department of Surgery University of Ilorin Ilorin Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abimbola V.","family":"Oladugba","sequence":"additional","affiliation":[{"name":"Department of Biostatistics University of Nigeria Nsukka Nigeria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary L.","family":"Marazita","sequence":"additional","affiliation":[{"name":"Department of Oral Biology Center for Craniofacial and Dental Genetics University of Pittsburgh Pittsburgh Pennsylvania"},{"name":"Department of Human Genetics University of Pittsburgh Pittsburgh Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey C.","family":"Murray","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa Iowa City Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3105-3231","authenticated-orcid":false,"given":"Adebowale A.","family":"Adeyemo","sequence":"additional","affiliation":[{"name":"National Human Genomic Research Institute Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1229-5964","authenticated-orcid":false,"given":"Azeez","family":"Butali","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Radiology and Medicine University of Iowa Iowa City Iowa"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,8,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31447"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq003"},{"key":"e_1_2_7_4_1","unstructured":"Conomos M. P. &Thornton T.(2016).GENESIS: GENetic EStimation and Inference in Structured samples (GENESIS): Statistical methods for analyzing genetic data from samples with population structure and\/or relatedness.R package version 2.4.0."},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2933"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060207"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts610"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30908"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2008.08.010"},{"key":"e_1_2_7_10_1","first-page":"242","article-title":"The epidemiology of orofacial clefts. 2. Associated malformations","volume":"16","author":"Kallen B.","year":"1996","journal-title":"Journal of Craniofacial Genetics and Developmental Biology"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anngen.2004.03.006"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.06.001"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20516"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2271"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36896"},{"key":"e_1_2_7_16_1","doi-asserted-by":"crossref","unstructured":"Liehr T. (2014).Uniparental Disomy (UPD) in Clinical Genetics. A Guide for Clinicians and Patients. Xviii. 192 p. 36 illus. 26 illus. in color. Hardcover ISBN: 978\u20103\u2010642\u201055287\u20108","DOI":"10.1007\/978-3-642-55288-5"},{"key":"e_1_2_7_17_1","first-page":"213","article-title":"Tobacco smoking and oral clefts: A meta\u2010analysis","volume":"82","author":"Little J.","year":"2004","journal-title":"Bulletin of the World Health Organization"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101013"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(2002)039<0149:NCLWOW>2.0.CO;2"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.195.3.7753993"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.5402306"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-2115(01)00347-5"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01441.x"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34046"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1597\/06-250.1"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.236"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33526"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1597\/07-241.1"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20581"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btl646"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2001.20.11.1175"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts606"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.459","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.459","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T23:30:19Z","timestamp":1694820619000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.459"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,23]]},"references-count":31,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1002\/mgg3.459"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.459","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2018,8,23]]},"assertion":[{"value":"2018-03-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-07-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-08-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}