{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:17:29Z","timestamp":1792153049338,"version":"4.4.0"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4861,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A baby with Wiedemann\u2010Beckwith syndrome (WBS) and her phenotypically normal mother carried the same paracentric inversion, inv(11)(p11.2 15.5), in the short arm of chromosome 11. A fetus, sib of the affected baby, had the same inversion and ultrasound scan showed exomphalos. The maternal grandmother is clinically and cytogenetically normal. The pattern of affection in this family is consistent with the suggestion that WBS can be caused by lack of a maternally imprinted gene at 11p15.5, and that in this family the inversion disrupts that gene.<\/jats:p>","DOI":"10.1002\/ajmg.1320420441","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:39:44Z","timestamp":1118497184000},"page":"638-641","source":"Crossref","is-referenced-by-count":32,"title":["Recurrent Wiedemann\u2010Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5)"],"prefix":"10.1002","volume":"42","author":[{"given":"Andrew M","family":"Norman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew P","family":"Read","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton\u2010Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tony","family":"Andrews","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dian","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1000","article-title":"Genomic imprinting and the Beckwith Wiedemann syndrome","volume":"46","author":"Brown KW","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/351665a0"},{"key":"e_1_2_1_4_1","first-page":"711","article-title":"Familial Wiedemann\u2010Beckwith syndrome and a second Wilms tumour locus both map to 11p15.5","volume":"44","author":"Koufos A","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(74)90383-3"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240107"},{"key":"e_1_2_1_7_1","first-page":"720","article-title":"Genetic linkage of Beckwith\u2010Wiedemann syndrome to 11p15","volume":"44","author":"Ping AJ","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)81127-0"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273006"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80014-6"},{"key":"e_1_2_1_11_1","first-page":"223","article-title":"Complexe malfomatif familial avec hernie ombilicale et macroglossie. Un \u201csyndrome nouveau\u201d?","volume":"13","author":"Wiedemann HR","year":"1964","journal-title":"J Genet Hum"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320420441","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320420441","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T07:09:41Z","timestamp":1698131381000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320420441"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,2,15]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1992,2,15]]}},"alternative-id":["10.1002\/ajmg.1320420441"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320420441","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,2,15]]}}}