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Such blood group discrepancies can either result from a haematopoiesis\u2010confined or body\u2010wide dispersed chimerism or mosaicism. Taking the distinct clinical consequences of these four different possibilities into account, we explored the responsible cause in nine affected individuals. Genotype analyses revealed that more than three\u2010quarters were chimaeras (two same\u2010sex females, four same\u2010sex males, one sex\u2010mismatched male), while two were mosaics. Short tandem repeat analyses of buccal swab, hair root and nail DNA suggested a body\u2010wide involvement in all instances. Moreover, genome\u2010wide array analyses unveiled that in both mosaic cases the causative genetic defect was a unique copy\u2010neutral loss of heterozygosity encompassing the entire long arm of chromosome 9. The practical transfusion\u2010 or transplantation\u2010associated consequences of such incidental discoveries are well known and therefore easily manageable. Far less appreciated is the fact that such findings also call attention to potential problems that directly ensue from their specific genetic make\u2010up. In case of chimerism, these are the appearance of seemingly implausible family relationships and pitfalls in forensic testing. In case of mosaicism, they concern with the necessity to delineate innocuous pre\u2010existent or age\u2010related from disease\u2010predisposing and disease\u2010indicating cell clones.<\/jats:p>","DOI":"10.1111\/bjh.19618","type":"journal-article","created":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T05:28:46Z","timestamp":1720416526000},"page":"1188-1196","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Body\u2010wide chimerism and mosaicism are predominant causes of naturally occurring <scp>ABO<\/scp> discrepancies"],"prefix":"10.1111","volume":"205","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0285-9540","authenticated-orcid":false,"given":"Eva\u2010Maria","family":"Dauber","sequence":"first","affiliation":[{"name":"Department of Transfusion Medicine and Cell Therapy Medical University of Vienna  Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7334-454X","authenticated-orcid":false,"given":"Oskar A.","family":"Haas","sequence":"additional","affiliation":[{"name":"St. Anna Children's Cancer Research Institute (CCRI)  Vienna Austria"},{"name":"Labdia Labordiagnostik  Vienna Austria"},{"name":"Department of Pediatrics, St. Anna Children's Hospital Medical University of Vienna  Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Nebral","sequence":"additional","affiliation":[{"name":"St. Anna Children's Cancer Research Institute (CCRI)  Vienna Austria"},{"name":"Labdia Labordiagnostik  Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph","family":"Gassner","sequence":"additional","affiliation":[{"name":"Institute of Translational Medicine, Private University in the Principality of Liechtenstein  Triesen Liechtenstein"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Haslinger","sequence":"additional","affiliation":[{"name":"St. Anna Children's Cancer Research Institute (CCRI)  Vienna Austria"},{"name":"Labdia Labordiagnostik  Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e9","family":"Geyeregger","sequence":"additional","affiliation":[{"name":"St. Anna Children's Cancer Research Institute (CCRI)  Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hein","family":"Hustinx","sequence":"additional","affiliation":[{"name":"Interregional Blood Transfusion SRC Ltd.  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