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Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration and rarely associated with tumors compared to paternal uniparental disomy of chromosome 11 (UPD(11)pat) and gain of methylation of imprinting center 1.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Our study aimed to describe the clinical, histopathological and genetic characteristics of two patients and establish genotype\u2010phenotype correlations. The clinical diagnosis was based on the criteria defined by the international expert consensus of BWS. Molecular study of 11p15.5\u00a0methylation status was assessed using methylation\u2010specific\u2010multiplex ligation probe amplification (MS\u2010MLPA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients were aged 12\u00a0months and 3\u00a0months and fulfilled the clinical score of BWS. MS\u2010MLPA showed molecular alterations consisting of loss of methylation in IC2 (IC2\u2010LOM) at the maternal allele for one patient and a mosaic UPD(11)pat for the second patient in whom follow\u2010up at 6months revealed adrenocortical carcinoma (ACC) with low grade of malignancy. Molecular subtypes guide the follow\u2010up and tumor surveillance, our major concern.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We have to take into account the psychological impact of a possible tumor whatever the underlying mechanism is. Nevertheless, the tumor risk remains high for UPD(11)pat. Our study extended the phenotype of BWS with absence of macrosomia in Tunisian patients, contrasting with literature, and added a supplementary case of ACC in the tumor spectrum of BWS patients with UPD(11)pat.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1796","type":"journal-article","created":{"date-parts":[[2021,9,12]],"date-time":"2021-09-12T18:01:14Z","timestamp":1631469674000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Beckwith\u2013Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8999-929X","authenticated-orcid":false,"given":"Hela","family":"Sassi","sequence":"first","affiliation":[{"name":"Department of Congenital and Hereditary Diseases Mongi Slim Hospital Marsa Tunis Tunisia"},{"name":"Faculty of Medicine of Tunis University Tunis El Manar Tunis 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