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G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22)t(8;22)(q22.1;p11.1)mat. Chromosome microarray analysis evidenced a 49\u2009Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. Two siblings also carry the balanced translocation. We have compared this case with other \u201cpure\u201d trisomies of 8q patients reported in the literature and with genome wide association studies recently published. This work highlights the involvement of chromosome 8q in orofacial clefts.<\/jats:p>","DOI":"10.1155\/2014\/730375","type":"journal-article","created":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T16:01:20Z","timestamp":1416931280000},"page":"1-4","source":"Crossref","is-referenced-by-count":7,"title":["A Rare Interstitial Duplication of 8q22.1\u20138q24.3 Associated with Syndromic Bilateral Cleft Lip\/Palate"],"prefix":"10.1155","volume":"2014","author":[{"given":"Regina Ferreira","family":"Rezek","sequence":"first","affiliation":[{"name":"Pontifical Catholic University of Minas Gerais (PUC Minas), 30535-901 Belo Horizonte, MG, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Ang\u00e9lica","family":"Rodrigues Abbas","sequence":"additional","affiliation":[{"name":"Pontifical Catholic University of Minas Gerais (PUC Minas), 30535-901 Belo Horizonte, MG, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana","family":"Forte Mazzeu","sequence":"additional","affiliation":[{"name":"Catholic University of Bras\u00edlia (UCB), 70790-160 Bras\u00edlia, DF, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siliana Maria","family":"Duarte Miranda","sequence":"additional","affiliation":[{"name":"Genetic Technology Laboratory, BIOCOD, 30140-070 Belo Horizonte, MG, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cibele","family":"Velloso-Rodrigues","sequence":"additional","affiliation":[{"name":"Institute of Biological Science, Department of Basic Sciences, Genetics, Federal University of Juiz de Fora (UFJF), Campus Universit\u00e1rio, Rua Jos\u00e9 Louren\u00e7o Kelmer, s\/n, Bairro S\u00e3o Pedro, 36036-900 Juiz de Fora, MG, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1597\/10-178"},{"issue":"3","key":"2","first-page":"216","volume":"24","year":"1987","journal-title":"Cleft Palate Journal"},{"issue":"1","key":"3","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1597\/1545-1569(1997)034<0007:CAESOC>2.3.CO;2","volume":"34","year":"1997","journal-title":"The Cleft Palate-Craniofacial Journal"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1590\/S1806-83242009000100007"},{"issue":"3","key":"5","doi-asserted-by":"crossref","first-page":"207","DOI":"10.17796\/jcpd.33.3.c244761467507721","volume":"33","year":"2009","journal-title":"Journal of Clinical Pediatric Dentistry"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1597\/09-217"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1597\/08-150"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-2115(01)00347-5"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34046"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.04.003"},{"key":"11","year":"2001"},{"issue":"4","key":"12","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1111\/j.1399-0004.1992.tb03234.x","volume":"42","year":"1992","journal-title":"Clinical Genetics"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400420"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1038\/ng.333"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.06.020"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20689"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23011"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1597\/10-242"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1089\/dna.2011.1383"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2360"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.09.001"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33237"}],"container-title":["Case Reports in Dentistry"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crid\/2014\/730375.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crid\/2014\/730375.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crid\/2014\/730375.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T05:29:06Z","timestamp":1717565346000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crid\/2014\/730375\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":22,"alternative-id":["730375","730375"],"URL":"https:\/\/doi.org\/10.1155\/2014\/730375","relation":{},"ISSN":["2090-6447","2090-6455"],"issn-type":[{"value":"2090-6447","type":"print"},{"value":"2090-6455","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}