{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T11:22:46Z","timestamp":1792149766943,"version":"4.4.0"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":3721,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,3,27]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Wiedemann\u2010Beckwith syndrome (WBS) is a syndrome including exomphalos, macroglossia, and generalized overgrowth. The locus has been assigned to 11p15.5, and genomic imprinting may play a part in the expression of one or more genes involved. Most cases are sporadic. An excess of female monozygotic twins discordant for WBS have been reported, and it has been proposed that this excess could be related to the process of X chromosome inactivation. We have therefore studied X chromosome inactivation in 13\u2010year\u2010old monozygotic twin girls who were discordant for WBS. In addition, both twins had Tourette syndrome. The twins were monochorionic and therefore the result of a late twinning process. This has also been the case in previously re\u2010ported discordant twin pairs with infor\u2010mation on placentation. X chromosome inactivation was determined in DNA from peripheral blood cells by PCR analysis at the androgen receptor locus. The affected twin had a completely skewed X inactiva\u2010tion, where the paternal allele was on the active X chromosome in all cells. The unaf\u2010fected twin had a moderately skewed X in\u2010activation in the same direction, whereas the mother had a random pattern. Further studies are necessary to establish a possible association between the expression of WBS and X chromosome inactivation. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320560219","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:59:25Z","timestamp":1118512765000},"page":"210-214","source":"Crossref","is-referenced-by-count":43,"title":["Non\u2010random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann\u2010Beckwith syndrome"],"prefix":"10.1002","volume":"56","author":[{"given":"Ragnhild","family":"Elise\u00f6rstavik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niels","family":"Tommerup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Eiklid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Helene\u00f6rstavik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1229","article-title":"Methylation of Hpall and Hhal sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","unstructured":"BenkePJ(1978):Familial Beckwith\u2010Wiedemann syndrome. 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