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A theory of delayed mutation of an unstable premutated gene is discussed and an interpretation and observations are offered which could alter slightly the expected pattern of inheritance. Eighty\u2010eight other family members were screened for evidence of WBS and noteworthy findings are presented.<\/jats:p>","DOI":"10.1002\/ajmg.1320090405","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:22:08Z","timestamp":1118496128000},"page":"291-299","source":"Crossref","is-referenced-by-count":48,"title":["Wiedemann\u2010Beckwith syndrome: Autosomal\u2010dominant inheritance in a family"],"prefix":"10.1002","volume":"9","author":[{"given":"Lyle G.","family":"Best","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald E.","family":"Hoekstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","unstructured":"BeckwithJB:Extreme cytomegaly of the adrenal fetal cortex omphalocele hyperplasia of kidneys and pancreas and Leydig\u2010cell hyperplasia. Another syndrome?Presented at Annual Meeting of Western Society for Pediatric Research Los Angeles California Nov. 11 1963."},{"key":"e_1_2_1_3_2","unstructured":"BeckwithJB WangCI DonnellGB GwinnJL:Hyperplastic fetal visceromegaly with macroglossia omphalocele cytomegaly of adrenal fetal cortex postnatal somatic gigantism and other abnormalities: Newly recognized syndrome. Proceedings of the American Pediatric Society Seattle Washington June 16\u201318 1964 (Abstr. 41)."},{"key":"e_1_2_1_4_2","first-page":"223","article-title":"Complexe malformatif familial avec hernie ombilicale et macroglossie \u2013 Un \u201csyndrome nouveau\u201d?","volume":"13","author":"Wiedemann HR","year":"1964","journal-title":"J G\u00e9n\u00e9t Hum"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-197007000-00002"},{"key":"e_1_2_1_6_2","first-page":"188","article-title":"Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly","volume":"2","author":"Beckwith JB","year":"1969","journal-title":"BD: OAS"},{"key":"e_1_2_1_7_2","first-page":"271","article-title":"Familial macroglossia\u2010omphalocele syndrome","volume":"24","author":"Chemke J","year":"1976","journal-title":"J G\u00e9n\u00e9t Hum"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(72)90825-2"},{"key":"e_1_2_1_9_2","first-page":"1","article-title":"The \u201cEMG\u201d syndrome (exomphalos, macroglossia, gigantism)","volume":"1","author":"Irving IM","year":"1970","journal-title":"Progr Pediatr Surg"},{"key":"e_1_2_1_10_2","first-page":"45","article-title":"Wiedemann\u2010Beckwith syndrome","volume":"2","author":"Forrester RM","year":"1973","journal-title":"Lancet"},{"key":"e_1_2_1_11_2","first-page":"187","article-title":"L'h\u00e9r\u00e9dit\u00e9 du syndrome de Wiedemann\u2010Beckwith","volume":"20","author":"Tovar JA","year":"1979","journal-title":"Chir Pediatr"},{"key":"e_1_2_1_12_2","first-page":"801","article-title":"Beckwith\u2010Wiedemann syndrome in a mother and her son","volume":"131","author":"Ben\u2010Galim E","year":"1977","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_13_2","first-page":"116","article-title":"Macroglossia in the Beckwith\u2010Wiedemann syndrome","volume":"84","author":"Grace JB","year":"1977","journal-title":"Transactions American Academy Ophthalmology and Otology"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(74)90383-3"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(75)90588-7"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00452093"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010107"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00440536"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)92044-8"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.2.136"},{"key":"e_1_2_1_21_2","first-page":"692","volume-title":"Scientific Tables","author":"Diem K","year":"1970"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(67)80003-4"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80322-2"},{"key":"e_1_2_1_24_2","first-page":"1222","article-title":"Medullary sponge kidney and partial Beckwith\u2010Wiedemann syndrome","volume":"79","author":"Duncan PA","year":"1979","journal-title":"NY State J Med"},{"key":"e_1_2_1_25_2","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1542\/peds.46.2.240","article-title":"Syndrome of hyperplastic fetal visceromegaly and neonatal hypoglycemia (Beckwith's syndrome): A report of seven cases","volume":"46","author":"Sotelo\u2010Avila C","year":"1970","journal-title":"Pediatrics"},{"key":"e_1_2_1_26_2","first-page":"255","article-title":"Neoplasms associated with the Beckwith\u2010Wiedemann syndrome","volume":"3","author":"Sotelo\u2010Avila C","year":"1970","journal-title":"Perspect Pediatr Pathol"},{"key":"e_1_2_1_27_2","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1542\/peds.40.5.886","article-title":"Wilm's tumor and congenital hemihypertrophy: Report of five new cases and review of the literature","volume":"40","author":"Fraumeni JF","year":"1967","journal-title":"Pediatrics"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196404302701802"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/30.5.439"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(67)80179-3"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1177\/000992287401300511"},{"key":"e_1_2_1_32_2","doi-asserted-by":"crossref","unstructured":"HerrmannJ OpitzJM:Delayed mutation as a cuase of genetic disease in man: Achondroplasia and the Wiedemann\u2010Beckwith syndrome. Institute for Medical Research Proceedings of Workshop on Regulation of Cell Proliferation and Differentiation. W. W. Nichols and R. W. Millers (eds). 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