{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:08:20Z","timestamp":1761955700581,"version":"build-2065373602"},"reference-count":21,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,11]]},"abstract":"<jats:p>Beckwith-Wiedemann syndrome (BWS), a disorder associated with neonatal hypoglycaemia, increased growth potential, and predisposition to Wilms's tumour (WT) and other malignancies, has been mapped to 11p15. The association with 11p15 duplications of paternal origin, of balanced translocations and inversions with breakpoints within 11p15.4-p15.5 of maternal origin, and the demonstration of uniparental paternal 11p15 isodisomy in some sporadic cases point towards the involvement of genomic imprinting. In agreement with this, we show the paternal origin of a de novo 9;11 translocation in a phenotypically normal mother, whose carrier daughter developed BWS. This supports the fact that BWS associated with balanced chromosome mutations is transmitted in the same sex dependent pattern as non-cytogenetic forms of familial BWS.<\/jats:p>","DOI":"10.1136\/jmg.30.11.958","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"958-961","source":"Crossref","is-referenced-by-count":28,"title":["Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5)."],"prefix":"10.1136","volume":"30","author":[{"given":"N","family":"Tommerup","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C A","family":"Brandt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Pedersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Bolund","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Kamper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,11,1]]},"reference":[{"article-title":"Lymphoblastoid cell lines from the two translocation carriers","author":"1812-89L\/1813-89L","key":"ref_1","unstructured":"Lymphoblastoid cell lines from the two translocation carriers (1812-89L\/1813-89L)"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/BF00282078","article-title":"Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature","volume":"74","author":"Pettenati, M.J.; Haines, J.L.; Higgins, R.R.; Wappner, R.S.; Palmer, C.G.; Weaver, D.D.","year":"1986","unstructured":"Pettenati MJ, Haines JL, Higgins RR, Wappner RS, Palmer CG, Weaver DD. Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 1986;74: 143-54.","journal-title":"Hum Genet"},{"key":"ref_3","first-page":"291","article-title":"Wiedemann-Beckwith syndrome: autosomal-dominant inheritance in a family","volume-title":"Am Med S, S, Genet 1981","volume":"9","author":"Best, L.G.; Hoekstra, R.E.","unstructured":"Best LG, Hoekstra RE. Wiedemann-Beckwith syndrome: autosomal-dominant inheritance in a family. Am Med S, S, Genet 1981;9:291-9."},{"key":"ref_4","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.; Takahashi, Ishikiriyama","year":"1986","unstructured":"Niikawa N, Ishikiriyama Takahashi et al. The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity. Am J7 Med Genet 1986;24:41- JM. 55.","journal-title":"Am J7 Med Genet"},{"key":"ref_5","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 I Med Genet 1989;33:155-60.","journal-title":"Am I Med Genet"},{"key":"ref_6","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"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1111\/j.1399-0004.1986.tb00588.x","article-title":"Deletion of chromosome 11(pllpl3) in a patient with Beckwith-Wiedemann syndrome","volume":"30","author":"Schmutz, S.M.","year":"1986","unstructured":"Schmutz SM. Deletion of chromosome 11(pllpl3) in a patient with Beckwith-Wiedemann syndrome.Clin Genet 1986;30:154-6.","journal-title":"Clin Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/0165-4608(86)90409-7","article-title":"Constitutional interstitial deletion of 1 lp1l and pericentric inversion of chromosome 9 in a patient with Wiedemann-Beckwith syndrome and hepatoblastoma","volume":"23","author":"Haas, O.A.; Zoubek, A.; Grumayer, E.; Gadner, H.","year":"1986","unstructured":"Haas OA, Zoubek A, Grumayer E, Gadner H. Constitutional interstitial deletion of 1 lp1l and pericentric inversion of chromosome 9 in a patient with Wiedemann-Beckwith syndrome and hepatoblastoma. Cancer Genet Cytogenet 1986;23:95-104.","journal-title":"Cancer Genet Cytogenet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1016\/S0022-3476(83)80014-6","article-title":"Abnormality of chromosome11 in patients with features of Beckwith-Wiedemann 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 chromosome11 in patients with features of Beckwith-Wiedemann syndrome. J Pediatr 1983;102:873-6.","journal-title":"J Pediatr"},{"key":"ref_10","first-page":"365","article-title":"An infant with Beckwith-Wiedemann syndrome and chromosomal duplication IIpi 3-pter: correlation of symptoms between Ip trisomy and Beckwith-Wiedemann syndrome","volume":"31","author":"Okano, Y.; Osasa, Y.; Yamamoto, H.; Hase, Y.; Tsuruhara, T.; Fujita, H.","year":"1986","unstructured":"Okano Y, Osasa Y, Yamamoto H, Hase Y, Tsuruhara T, Fujita H. An infant with Beckwith-Wiedemann syndrome and chromosomal duplication IIpi 3-pter: correlation of symptoms between Ip trisomy and Beckwith-Wiedemann syndrome. Jpn J Wales JKH, Walker V, Hum Genet MooreIE, 1986;31:365-72.","journal-title":"Jpn J Wales JKH, Walker V, Hum Genet MooreIE"},{"key":"ref_11","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"},{"key":"ref_12","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, N.; Marsumoto, J.; Niikawa, N.","year":"1991","unstructured":"Tonoki H, Narahara N, Marsumoto J, 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_13","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1159\/000132931","article-title":"Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis","volume":"53","author":"Andersen, L.B.; Tommerup, M.; Koch, J.","year":"1990","unstructured":"Andersen LB, Tommerup M, Koch J. Formation of a minichromosome by excision of the proximal region of 17q in a patient with von Recklinghausen neurofibromatosis. Cytogenet Cell Genet 1990;53:206-10.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1016\/0092-8674(91)90513-X","article-title":"Parental imprinting of the mouse insulin-like growth factor II gene","volume":"64","author":"DeChiara, T.M.; Robertson, E.J.; Efstratiadis, A.","year":"1991","unstructured":"DeChiara TM, Robertson EJ, Efstratiadis A. Parental imprinting of the mouse insulin-like growth factor II gene. Cell 1991;64:849-59.","journal-title":"Cell"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1038\/351667a0","article-title":"Beechey CV,%Surani MA. Embryological and molecular investigation of parental imprinting on mouse chromosome 7","volume":"351","author":"Ferguson-Smith, A.C.; Cattanach, B.M.; Barton, S.C.","year":"1991","unstructured":"Ferguson-Smith AC, Cattanach BM, Barton SC, Beechey CV,%Surani MA. Embryological and molecular investigation of parental imprinting on mouse chromosome 7. Nature 1991;351:667-70.","journal-title":"Nature"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/345078a0","article-title":"A growthdeficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting","volume":"345","author":"DeChiara, T.M.; Efstratiadis, A.; Robertson, E.J.","year":"1990","unstructured":"DeChiara TM, Efstratiadis A, Robertson EJ. A growthdeficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature 1990;345:78-80.","journal-title":"Nature"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/0168-9525(91)90230-N","article-title":"Genomic imprinting in mammalian development: a parental tug of war","volume":"7","author":"Moore, T.; Haig, D.","year":"1991","unstructured":"Moore T, Haig D. Genomic imprinting in mammalian development: a parental tug of war. Trends Genet 1991;7:45-9.","journal-title":"Trends Genet"},{"key":"ref_18","first-page":"3279","article-title":"Loss of heterozygosity in Wilms' tumours, studied pressor regions","volume":"50","author":"Mannens, M.; Devilee, P.; Bliek, J.","year":"1992","unstructured":"Mannens M, Devilee P, Bliek J, et al. Loss of heterozygosity in Wilms' tumours, studied pressor regions, is limited to cfohrro6mpoustoamtieve11t. uCmaonucre-rsuRpe-s 1992;50:3279-83."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1136\/jmg.30.9.713","article-title":"Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders","volume":"30","author":"Tommerup, N.","year":"1993","unstructured":"Tommerup N. Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. J Med Genet 1993;30:713-27.","journal-title":"J Med Genet"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/BF00287054","article-title":"Parental origin of de novo chromosome rearrangements","volume":"53","author":"Chamberlin, J.; Magenis, R.E.","year":"1980","unstructured":"Chamberlin J, Magenis RE. Parental origin of de novo chromosome rearrangements. Hum Genet 1980;53:343-7.","journal-title":"Hum Genet"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/jmg.28.4.217","article-title":"On the parental origin of de novo mutation in man","volume":"28","author":"Chandley, A.C.","year":"1991","unstructured":"Chandley AC. On the parental origin of de novo mutation in man. J Med Genet 1991;28:217-23.","journal-title":"J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.11.958","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:17:31Z","timestamp":1760728651000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.11.958"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,11]]},"references-count":21,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1993,11,1]]},"published-print":{"date-parts":[[1993,11]]}},"alternative-id":["10.1136\/jmg.30.11.958"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.11.958","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1993,11]]}}}