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The incidence of monozygotic (MZ) twins in BWS is higher than in the general population. Most MZ twins with BWS are female and have phenotypical discordance: one twin is clinically diagnosed with BWS, while the other shows a mild or normal phenotype. The most frequent (epi)genetic alteration in MZ twins is loss of methylation of imprinting control region 2 (ICR2\u2010LOM) at 11p15.5. Intriguingly, ICR2\u2010LOM is usually found in the peripheral blood leukocytes (PBL) of both twins, even if they are clinically discordant. Here, we present a rare pair of MZ dichorionic diamniotic female twins with BWS and concordant phenotypes (a Beckwith\u2013Wiedemann spectrum score of 5 in each twin). Molecular analysis of genomic DNA from PBL revealed ICR2\u2010LOM in one twin but not the other. Our analyses suggest that ICR2\u2010LOM occurred between days 1 and 3 after fertilization, followed by twinning. We speculate that during embryogenesis, ICR2\u2010LOM cells were distributed to the hematopoietic stem cells in different ratios in the two fetuses, and also to commonly affected tissues, such as the tongue, in similar ratios, although we were unable to analyze any tissues other than PBL.<\/jats:p>","DOI":"10.1002\/ajmg.a.62364","type":"journal-article","created":{"date-parts":[[2021,5,26]],"date-time":"2021-05-26T06:42:32Z","timestamp":1622011352000},"page":"3062-3067","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith\u2013Wiedemann syndrome"],"prefix":"10.1002","volume":"185","author":[{"given":"Feifei","family":"Sun","sequence":"first","affiliation":[{"name":"Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine Saga University  Saga Japan"},{"name":"Department of Ultrasound Shengjing Hospital of China Medical University  Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Hara","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine Saga University  Saga Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiyoko","family":"Tomita","sequence":"additional","affiliation":[{"name":"Department of Neonatology Yokohama City Seibu Hospital, St. Marianna University School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuka","family":"Tanoue","sequence":"additional","affiliation":[{"name":"Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine Saga University  Saga 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