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Molecular investigation of the tumor biopsy at diagnosis revealed the loss of the constitutional wild\u2010type <jats:italic>TSC2<\/jats:italic> allele, and loss of heterozygosity for the <jats:italic>WT1<\/jats:italic> gene. Deletion of the <jats:italic>WTX<\/jats:italic> gene was also present, but it involved the functionally inactive X chromosome. No mutation affecting the remaining <jats:italic>WT1<\/jats:italic> and <jats:italic>WTX<\/jats:italic> alleles, as well as the <jats:italic>CTNNB1<\/jats:italic> gene was found. Pathological examination of the surgical specimen documented the presence of diffuse anaplasia and p53 immunoreactivity. To the best of our knowledge, this is the second report of a patient with tuberous sclerosis who developed a WT, and it represents the first case in which a detailed clinical and molecular description is provided. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34001","type":"journal-article","created":{"date-parts":[[2011,5,12]],"date-time":"2011-05-12T21:46:54Z","timestamp":1305236814000},"page":"1419-1424","source":"Crossref","is-referenced-by-count":4,"title":["Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex"],"prefix":"10.1002","volume":"155","author":[{"given":"Filippo","family":"Spreafico","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia Dora","family":"Notarangelo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard 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