{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T00:07:05Z","timestamp":1758845225294,"version":"3.44.0"},"reference-count":5,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T00:00:00Z","timestamp":1757030400000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Human chimerism is rare, and most prevalent with discordant chromosomal sex. We report a male 46,XY\/46,XY chimera, born through a spontaneously conceived pregnancy to a healthy 32\u2010year\u2010old G1P0 Indian, African, and Scottish female and her 34\u2010year\u2010old healthy Chinese partner. The prenatal presentation and postnatal outcomes are described.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A prenatal cell\u2010free DNA screening test, amniocentesis with QF\u2010PCR and SNP microarray, and postnatal microarray and <jats:italic>FISH<\/jats:italic> study on peripheral blood, placenta, and umbilical cord were used to evaluate chimerism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The prenatal cell\u2010free screening test revealed high risk for triploidy\/vanishing twin, but there was no confirmation from early ultrasound. Subsequent QF\u2010PCR on amniocytes showed a profile suggestive of a tetragametic chimera. G\u2010banding showed a 46,XY karyotype. A SNP microarray detected two copy number gains of uncertain significance on chromosome 6q, derived from the father who was a balanced carrier of ins(6;11). A postnatal microarray and <jats:italic>FISH<\/jats:italic> study confirmed the presence of two cell lines, each with a 46,XY complement but with different submicroscopic structural changes including recombinant and insertion changes. Clinical evaluations of the child at birth and 8\u2009weeks of age were coordinated to detect the presence of chimeric symptoms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>With a confirmed incidental finding of 46,XY\/46,XY chimerism, we present that underlying same\u2010sex chimerism may be under\u2010recognized.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70138","type":"journal-article","created":{"date-parts":[[2025,9,6]],"date-time":"2025-09-06T05:54:17Z","timestamp":1757138057000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["46,XY\/46,XY Chimerism: Prenatal Presentation and Postnatal Outcome"],"prefix":"10.1002","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1899-4392","authenticated-orcid":false,"given":"Wafa","family":"Baqri","sequence":"first","affiliation":[{"name":"Temerty Faculty of Medicine, University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2477-1665","authenticated-orcid":false,"given":"Elaine S.","family":"Goh","sequence":"additional","affiliation":[{"name":"Laboratory Medicine and Genetics Trillium Health Partners  Mississauga Ontario Canada"},{"name":"Department of Laboratory Medicine and Pathobiology University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Berndl","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Sunnybrook Hospital  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judy","family":"Seesahai","sequence":"additional","affiliation":[{"name":"Department of Newborn and Developmental Paediatrics Sunnybrook Health Sciences Centre  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Skidmore","sequence":"additional","affiliation":[{"name":"Department of Newborn and Developmental Paediatrics Sunnybrook Health Sciences Centre  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea K.","family":"Vaags","sequence":"additional","affiliation":[{"name":"Laboratory Medicine and Genetics Trillium Health Partners  Mississauga Ontario Canada"},{"name":"Department of Laboratory Medicine and Pathobiology University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana","family":"Kekis","sequence":"additional","affiliation":[{"name":"Laboratory Medicine and Genetics Trillium Health Partners  Mississauga Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,9,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq003"},{"key":"e_1_2_10_3_1","unstructured":"Darby A.2021.\u201cThe Case of Lydia Fairchild and Her Chimerism (2002).\u201d The Embryo Project Encyclopedia.https:\/\/embryo.asu.edu\/pages\/case\u2010lydia\u2010fairchild\u2010and\u2010her\u2010chimerism\u20102002."},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.48.3.332"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.103971"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.embor.7400918"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70138","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T06:47:47Z","timestamp":1758782867000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.70138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":5,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1002\/mgg3.70138"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.70138","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"2024-04-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70138"}}