{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:45:36Z","timestamp":1779929136043,"version":"3.53.1"},"reference-count":25,"publisher":"Necmettin Erbakan University Press","issue":"01","funder":[{"name":"Edgard Santos Teaching Hospital Academic, Federal University of Bahia, Salvador, Bahia, Brazil"},{"name":"DNA Laboratory \u2013 Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Approximately 30 sex chromosome discordant chimera cases have been reported to date. In particular, there are few reported cases of chimerism involving coexisting normal and abnormal lineages that each carries a distinct sex chromosome complement. To our knowledge, this is the first case of sexual chimerism with a simultaneous chromosomal aneuploidy involving chromosome 8. This report represents the data from 11 years of follow-up.<\/jats:p>","DOI":"10.1055\/s-0040-1721440","type":"journal-article","created":{"date-parts":[[2020,12,7]],"date-time":"2020-12-07T19:25:58Z","timestamp":1607369158000},"page":"081-085","source":"Crossref","is-referenced-by-count":4,"title":["Chimerism 47,XY,\u2009+\u20098\/46,XX: Follow-up for 11 Years"],"prefix":"10.53391","volume":"12","author":[{"given":"Ac\u00e1cia Fernandes Lacerda","family":"de Carvalho","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University of Bahia, Salvador, Bahia, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula Monique Leite","family":"Pitanga","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University of Bahia, Salvador, Bahia, Brazil"},{"name":"DNA Laboratory \u2013 Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esmeralda Santos","family":"Alves","sequence":"additional","affiliation":[{"name":"DNA Laboratory \u2013 Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil"},{"name":"Department of Medical Genetics, Edgard Santos Teaching Hospital Academic, Federal University of Bahia, Salvador, Bahia, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego Santana Chaves Geraldo","family":"Miguel","sequence":"additional","affiliation":[{"name":"DNA Laboratory \u2013 Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laila Damasceno Espirito","family":"Santo","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University of Bahia, Salvador, Bahia, Brazil"},{"name":"DNA Laboratory \u2013 Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Eliete Fernandes","family":"de Ara\u00fajo","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics and Mutagenesis, Institute of Biology, Federal University of Bahia, Salvador, Bahia, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Carolina Pereira","family":"Ornellas","sequence":"additional","affiliation":[{"name":"DNA Laboratory \u2013 Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Bet\u00e2nia Pereira","family":"Toralles","sequence":"additional","affiliation":[{"name":"DNA Laboratory \u2013 Laboratory Center for Genetics and Molecular Biology, Salvador, Bahia, Brazil"},{"name":"Department of Medical Genetics, Edgard Santos Teaching Hospital Academic, Federal University of Bahia, Salvador, Bahia, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2020,12,7]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1073\/pnas.48.3.332","article-title":"An XX\/XY human hermaphrodite resulting from double fertilization","volume":"48","author":"S M Gartler","year":"1962","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"08","key":"ref2","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1016\/S0929-6646(09)60165-0","article-title":"Prenatal diagnosis and genetic analysis of a fetus with 47,XX,+21\/46,XX mosaicism and XX\/XY chimerism","volume":"105","author":"H L Hwa","year":"2006","journal-title":"J Formos Med Assoc"},{"issue":"04","key":"ref3","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1093\/humrep\/del480","article-title":"Prenatal diagnosis and normal outcome of a 46,XX\/46,XY chimera: a case report","volume":"22","author":"V Malan","year":"2007","journal-title":"Hum Reprod"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1111\/j.1749-6632.2008.03570.x","article-title":"Chimerism in black southern African patients with true hermaphroditism 46,XX\/47XY,+21 and 46,XX\/46,XY","volume":"1151","author":"M Ramsay","year":"2009","journal-title":"Ann N Y Acad Sci"},{"issue":"06","key":"ref5","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1002\/pd.1970080606","article-title":"XX\/XY chimerism encountered during prenatal diagnosis","volume":"8","author":"A S Freiberg","year":"1988","journal-title":"Prenat Diagn"},{"issue":"04","key":"ref6","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1046\/j.1469-0705.2001.00393.x","article-title":"Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow","volume":"17","author":"S Campbell","year":"2001","journal-title":"Ultrasound Obstet Gynecol"},{"key":"ref7","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the Head and Neck","author":"R J Gorlin","year":"2001","edition":"4th ed."},{"issue":"03","key":"ref8","first-page":"138","article-title":"Multiple cardiac abnormalities in a case of non-mosaic trisomy 8","volume":"14","author":"W Hendson","year":"2003","journal-title":"Cardiovasc J S Afr"},{"key":"ref9","first-page":"437101","article-title":"Warkany syndrome: a rare case report","volume":"2011","author":"A Agrawal","year":"2011","journal-title":"Case Rep Pediatr"},{"issue":"04","key":"ref10","first-page":"197","article-title":"Constitutional trisomy 8 mosaicism syndrome: case report and review","volume":"2","author":"A M Udayakumar","year":"2013","journal-title":"J Pediatr Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/0014-4827(60)90138-5","article-title":"Chromosome preparations of leucocytes cultured from human peripheral blood","author":"P S Moorhead","year":"1960","journal-title":"Exp Cell Res"},{"key":"ref12","volume-title":"ISCN - An International System for Human Cytogenetic Nomenclature","author":"J McGowan-Jordan","year":"2016"},{"issue":"04","key":"ref13","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1007\/s00414-018-1914-5","article-title":"Identification of tetragametic human chimerism by routine DNA profiling","volume":"133","author":"J Novotn\u00fd","year":"2019","journal-title":"Int J Legal Med"},{"issue":"05","key":"ref14","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1111\/j.1399-0004.2006.00689.x","article-title":"Chimera and other fertilization errors","volume":"70","author":"V Malan","year":"2006","journal-title":"Clin Genet"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1186\/1471-2350-13-85","article-title":"The identification of a spontaneous 47, XX, +21\/46, XY chimeric fetus with male genitalia","volume":"13","author":"K F Lee","year":"2012","journal-title":"BMC Med Genet"},{"issue":"10","key":"ref16","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1136\/jmg.31.10.816","article-title":"Chimaerism shown by cytogenetics and DNA polymorphism analysis","volume":"31","author":"A J Green","year":"1994","journal-title":"J Med Genet"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1016\/S0022-3476(06)80172-1","article-title":"True hermaphroditism: genetic variants and clinical management","volume":"125","author":"C G Hadjiathanasiou","year":"1994","journal-title":"J Pediatr"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1002\/ajmg.1320490415","article-title":"Case of 46,XX\/47,XY, +21 chimerism in a newborn infant with ambiguous genitalia","volume":"49","author":"T Sawai","year":"1994","journal-title":"Am J Med Genet"},{"issue":"01","key":"ref19","first-page":"115","article-title":"Trisomy 8 mosaicism syndrome","volume":"43","author":"M Wi\u015bniewska","year":"2002","journal-title":"J Appl Genet"},{"issue":"03","key":"ref20","first-page":"303","article-title":"Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil","volume":"3","author":"A C Duarte","year":"2004","journal-title":"Genet Mol Res"},{"issue":"01","key":"ref21","first-page":"24026","article-title":"46, XX\/46, XY chimerism \u2013 a case report","volume":"55","author":"N Aruna","year":"2006","journal-title":"J Anat Soc India"},{"issue":"01","key":"ref22","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1002\/ajmg.10055","article-title":"Dispermic chimerism with two abnormal cell lines, 47,XY, +21 and 47,XX, +12","volume":"107","author":"J E Wiley","year":"2002","journal-title":"Am J Med Genet"},{"issue":"09","key":"ref23","doi-asserted-by":"crossref","first-page":"2277","DOI":"10.1002\/ajmg.a.33594","article-title":"Chimerism resulting from parthenogenetic activation and dispermic fertilization","volume":"152A","author":"J Winberg","year":"2010","journal-title":"Am J Med Genet A"},{"issue":"02","key":"ref24","doi-asserted-by":"crossref","first-page":"100","DOI":"10.25100\/cm.v47i2.2258","article-title":"Mosaic trisomy 8 detected by fibroblasts cultured of skin","volume":"47","author":"G Giraldo","year":"2016","journal-title":"Colomb Med (Cali)"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"8535091","DOI":"10.1155\/2018\/8535091","article-title":"High incidence of gastrointestinal ulceration and cytogenetic aberration of trisomy 8 as typical features of Behcet's disease associated with Myelodysplastic syndrome: a series of 16 consecutive Chinese patients from the Shanghai Behcet's disease database and comparison with the literature","volume":"2018","author":"Y Shen","year":"2018","journal-title":"BioMed Res Int"}],"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1721440.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:46:05Z","timestamp":1758138365000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1721440"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,7]]},"references-count":25,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2023,1,18]]},"published-print":{"date-parts":[[2023,3]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1721440","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12,7]]}}}