{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T02:24:17Z","timestamp":1771640657680,"version":"3.50.1"},"reference-count":22,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,4]]},"abstract":"<jats:p>Beckwith-Wiedemann syndrome (BWS) is often associated with embryonal tumours (nephroblastoma, adrenocortical carcinoma, hepatoblastoma, and rhabdomyosarcoma). Several pedigrees have been reported strongly suggesting autosomal dominant inheritance and an excess of transmitting females was noticed in these families. We confirmed this excess using 19 published pedigrees and showed that this excess was for two reasons: first, reduced fecundity in affected males compared to females in a ratio of 1:4.6, and, second, a smaller risk of being affected in a ratio of 1:3 for subjects having inherited the gene from their father. These latter findings suggest genomic imprinting. Furthermore, considering these results together with other observations, such as the parental origin of the 15p15.5 duplication and the existence of uniparental disomy in some sporadic cases, we propose that overgrowth in BWS patients and malignant proliferation in associated tumours reflect an imbalance between paternal and maternal alleles.<\/jats:p>","DOI":"10.1136\/jmg.29.4.217","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"217-220","source":"Crossref","is-referenced-by-count":59,"title":["Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females."],"prefix":"10.1136","volume":"29","author":[{"given":"C","family":"Moutou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Junien","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Henry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Bona\u00efti-Pelli\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1992,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1002\/ajmg.1320240107","article-title":"The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity","volume":"24","author":"Niikawa, N.; Ishikiriyama, S.; Takahashi, S.","year":"1986","unstructured":"Niikawa N, Ishikiriyama S, Takahashi S, et al. The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity. Am J Med Genet 1986; 24:41-55.","journal-title":"Am J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1016\/S0022-3476(83)80014-6","article-title":"Abnormality of chromosome 11 in patients with features of BeckwithWiedemann syndrome","volume":"102","author":"Waziri, M.; Patil, SR, Hanson; JW, Bartley; J.A.","year":"1983","unstructured":"Waziri M, Patil SR, Hanson JW, Bartley JA. Abnormality of chromosome 11 in patients with features of BeckwithWiedemann syndrome. J Pediatr 1983;102:873-6.","journal-title":"J Pediatr"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1007\/BF00273006","article-title":"Trisomy 1 lpl5 and BeckwithWiedemann syndrome: a report of two cases","volume":"67","author":"Turleau, C.; de Grouchy, J.; Chavin-Colin, F.; Martelli, H.; Voyer, M.; Charlas, R.","year":"1984","unstructured":"Turleau C, de Grouchy J, Chavin-Colin F, Martelli H, Voyer M, Charlas R. Trisomy 1 lpl5 and BeckwithWiedemann syndrome: a report of two cases. Hum Genet 1984;67:219-2 1.","journal-title":"Hum Genet"},{"key":"ref_4","first-page":"102","article-title":"Partial trisomy lp with interatrial septal aneurysm: case report and literature review","volume":"28","author":"Aleck, K.; Williams, J.; Mongkolsmai, C.; Knight, S.; Taysi, K.","year":"1985","unstructured":"Aleck K, Williams J, Mongkolsmai C, Knight S, Taysi K. Partial trisomy lp with interatrial septal aneurysm: case report and literature review. Ann Genet (Paris) 1985;28: 102-6.","journal-title":"Ann Genet (Paris)"},{"key":"ref_5","first-page":"97","article-title":"Trisomy lIpl5 and Beckwith-Wiedemann syndrome: report of two new cases","volume":"28","author":"Journel, H.; Lucas, J.; Allaire, C.","year":"1985","unstructured":"Journel H, Lucas J, Allaire C, et al. Trisomy lIpl5 and Beckwith-Wiedemann syndrome: report of two new cases. Ann Genet (Paris) 1985;28:97-101.","journal-title":"Ann Genet (Paris)"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/BF00441878","article-title":"Bronze baby syndrome, biliary hypoplasia, incomplete BeckwithWiedemann syndrome and partial trisomy 11","volume":"145","author":"Wales, J.K.H.; Walker, V.; Moore, I.E.; Clayton, P.T.","year":"1986","unstructured":"Wales JKH, Walker V, Moore IE, Clayton PT. Bronze baby syndrome, biliary hypoplasia, incomplete BeckwithWiedemann syndrome and partial trisomy 11. Eur J Pediatr 1986;145:141-3.","journal-title":"Eur J Pediatr"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/BF00279003","article-title":"Molecular definition of the IIp15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma","volume":"81","author":"Henry, I.; Jeanpierre, M.; Couillin, P.","year":"1989","unstructured":"Henry I, Jeanpierre M, Couillin P, et al. Molecular definition of the IIp15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma. Hum Genet 1989;81:273-7.","journal-title":"Hum Genet"},{"key":"ref_8","first-page":"1000","article-title":"Genomic imprinting and the Beckwith-Wiedemann syndrome","volume":"46","author":"Brown, K.W.; Williams, J.C.; Maitland, N.J.; Mott, M.G.","year":"1990","unstructured":"Brown KW, Williams JC, Maitland NJ, Mott MG. Genomic imprinting and the Beckwith-Wiedemann syndrome. Am J Hum Genet 1990;46:1000-1.","journal-title":"Am J Hum Genet"},{"issue":"71","key":"ref_9","first-page":"1","article-title":"Familial Wiedemann-Beckwith syndrome and a second Wilms' tumor locus both map on llpl5.5","volume":"44","author":"Koufos, A.; Grundy, P.; Morgan, K.","year":"1989","unstructured":"Koufos A, Grundy P, Morgan K, et al. Familial Wiedemann-Beckwith syndrome and a second Wilms' tumor locus both map on llpl5.5. Am J Hum Genet 1989;44:71 1-9.","journal-title":"Am J Hum Genet"},{"key":"ref_10","first-page":"15","article-title":"Genetic linkage of Beckwith-Wiedemann syndrome to","volume":"44","author":"Ping, A.J.; Reeve, A.E.; Law, D.J.; Young, M.R.; Boehnke, M.; Feinberg, A.P.","year":"1989","unstructured":"Ping AJ, Reeve AE, Law DJ, Young MR, Boehnke M, Feinberg AP. Genetic linkage of Beckwith-Wiedemann syndrome to I I p 15. Am J Hum Genet 1989;44:720-3.","journal-title":"Am J Hum Genet"},{"key":"ref_11","first-page":"413","article-title":"Non random loss of maternal chromosomes in Wilms'","volume":"40","author":"Schroeder, W.T.; Chao, L.Y.; Dao, D.D.","year":"1987","unstructured":"Schroeder WT, Chao LY, Dao DD, et al. Non random loss of maternal chromosomes in Wilms' tumors. Am J Hum Genet 1987;40:413-20.","journal-title":"tumors. Am J Hum Genet"},{"key":"ref_12","first-page":"283","article-title":"Maternal allele loss in Wilms'","volume":"i:","author":"Williams, J.C.; Brown, K.W.; Mott, M.G.; Maitland, N.J.","year":"1989","unstructured":"Williams JC, Brown KW, Mott MG, Maitland NJ. Maternal allele loss in Wilms' tumour. Lancet 1989;i:283-4.","journal-title":"tumour. Lancet"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"7480","DOI":"10.1073\/pnas.86.19.7480","article-title":"A model for embryonal rhabdomyosarcoma tumorigenesis that involves genomic imprinting","volume":"86","author":"Scrable, H.; Cavenee, W.; Ghavimi, F.; Lowell, M.; Morgan, K.; Sapienza, C.","year":"1989","unstructured":"Scrable H, Cavenee W, Ghavimi F, Lowell M, Morgan K, Sapienza C. A model for embryonal rhabdomyosarcoma tumorigenesis that involves genomic imprinting. Proc Natl Acad Sci USA 1989;86:7480-4.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_14","first-page":"932","article-title":"Autosomal dominant sex dependent transmission of the WiedemannBeckwith syndrome","volume":"i:","author":"Lubinsky, M.; Hermann, J.; Kossef, A.L.; Opitz, J.M.","year":"1974","unstructured":"Lubinsky M, Hermann J, Kossef AL, Opitz JM. Autosomal dominant sex dependent transmission of the WiedemannBeckwith syndrome. Lancet 1974;i:932.","journal-title":"Lancet"},{"key":"ref_15","first-page":"1","article-title":"Genetic tests under incomplete ascertainment","volume":"11","author":"Morton, N.E.","year":"1959","unstructured":"Morton NE. Genetic tests under incomplete ascertainment. AmJ Hum Genet 1959;11:1-16.","journal-title":"AmJ Hum Genet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/S0022-3476(80)80322-2","article-title":"Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential","volume":"96","author":"Sotelo-Avila, C.; Gonzales-Crussi, F.; Fowler, J.W.","year":"1980","unstructured":"Sotelo-Avila C, Gonzales-Crussi F, Fowler JW. Complete and incomplete forms of Beckwith-Wiedemann syndrome: their oncogenic potential. Pediatr 1980; 96:47-50.","journal-title":"Pediatr"},{"key":"ref_17","first-page":"1291","article-title":"Genomic imprinting in hereditary glomus tumours: evidence for a new genetic theory","volume":"ii:","author":"der Mey AGL, Van; PD, Maaswinkel-Mooy; CJ, Cornelisse; PH, Schmidt; der Kamp JJP, Van","year":"1989","unstructured":"Van der Mey AGL, Maaswinkel-Mooy PD, Cornelisse CJ, Schmidt PH, Van der Kamp JJP. Genomic imprinting in hereditary glomus tumours: evidence for a new genetic theory. Lancet 1989;ii:1291-4.","journal-title":"Lancet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1002\/ajmg.1320330202","article-title":"Dominant inheritance of Wiedemann-Beckwith syndrome: further evidence for transmission of \"unstable premutation\" through carrier women","volume":"33","author":"Aleck, K.A.; Hadro, T.A.","year":"1989","unstructured":"Aleck KA, Hadro TA. Dominant inheritance of Wiedemann-Beckwith syndrome: further evidence for transmission of \"unstable premutation\" through carrier women. Am Med Genet 1989;33:155-60.","journal-title":"Am Med Genet"},{"key":"ref_19","first-page":"1669","article-title":"Cellular mosaicism in the methylation and expression of hemizygous loci in the mouse","volume":"2","author":"McGowan, R.; Cambell, R.; Peterson, A.; Sapienza, C.","year":"1989","unstructured":"McGowan R, Cambell R, Peterson A, Sapienza C. Cellular mosaicism in the methylation and expression of hemizygous loci in the mouse. Genes Dev 1989;2:1669-76.","journal-title":"Genes Dev"},{"key":"ref_20","first-page":"93","article-title":"Beckwith Wiedemann syndrome: clinical comparison between patients with and without I1pl5 trisomy","volume":"28","author":"Turleau, C.; de Grouchy, J.","year":"1985","unstructured":"Turleau C, de Grouchy J. Beckwith Wiedemann syndrome: clinical comparison between patients with and without I1pl5 trisomy. Ann Genet (Paris) 1985;28:93-6.","journal-title":"Ann Genet (Paris)"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1159\/000133059","article-title":"Regional mapping of the parathyroid hormone gene (PTH) by cytogenetic and molecular studies","volume":"56","author":"Tonoki, H.; Narahara, K.; Matsumoto, T.; Niikawa, N.","year":"1991","unstructured":"Tonoki H, Narahara K, Matsumoto T, Niikawa N. Regional mapping of the parathyroid hormone gene (PTH) by cytogenetic and molecular studies. Cytogenet Cell Genet 1991;56:103-4.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1038\/351665a0","article-title":"Uniparental paternal disomy in a genetic cancer-predisposing syndrome","volume":"351","author":"Henry, I.; Bonaiti-Pellie, C.; Junien, C.","year":"1991","unstructured":"Henry I, Bonaiti-Pellie C, Junien C. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 1991;351:665-7.","journal-title":"Nature"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.29.4.217","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:00:51Z","timestamp":1760767251000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.29.4.217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,4]]},"references-count":22,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1992,4,1]]},"published-print":{"date-parts":[[1992,4]]}},"alternative-id":["10.1136\/jmg.29.4.217"],"URL":"https:\/\/doi.org\/10.1136\/jmg.29.4.217","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,4]]}}}