{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:24:37Z","timestamp":1760783077384,"version":"build-2065373602"},"reference-count":22,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,2]]},"abstract":"<jats:p>Molecular genetic investigation of a female infant with Beckwith-Wiedemann syndrome (BWS) showed loss of IGF2 imprinting but no evidence of uniparental disomy. In addition, a deletion of chromosome 18q22.1 was identified in this infant without clinical features of 18q-syndrome (microcephaly, short stature, hypotonia). The association of a chromosome 18 deletion and BWS may be coincidental or may indicate the location of a trans activating regulator element for maintenance of IGF2 imprinting.<\/jats:p>","DOI":"10.1136\/jmg.35.2.162","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"162-164","source":"Crossref","is-referenced-by-count":9,"title":["Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion."],"prefix":"10.1136","volume":"35","author":[{"given":"C M","family":"Brewer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W W","family":"Lam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Hayward","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Grace","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E R","family":"Maher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D R","family":"FitzPatrick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,2,1]]},"reference":[{"key":"ref_1","first-page":"579","article-title":"Deletion parteille des bras longs du chromosome 18","volume":"12","author":"de Grouchy J; P, Royer; C, Salmon; M, Lamy","year":"1964","unstructured":"de Grouchy J, Royer P, Salmon C, Lamy M. Deletion parteille des bras longs du chromosome 18. Pathol Biol 1964;12:579-82.","journal-title":"Pathol Biol"},{"issue":"3","key":"ref_2","first-page":"155","article-title":"Syndromes associated with deletion of the long arm of chromosome","volume":"1979","author":"Wilson, M.G.; Towner, J.W.; Forsman, I.; Siris, E.","unstructured":"Wilson MG, Towner JW, Forsman I, Siris E. Syndromes associated with deletion of the long arm of chromosome 18 (del 18q). Al _7 Med Genet 1979,3: 155-74.","journal-title":"Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1111\/j.1399-0004.1987.tb02797.x","article-title":"Contribution to the 18qsyndrome. A patient with del(I8)(q22.3qter)","volume":"31","year":"1987","unstructured":"Felding I, Kristoffersson U, Sjostrom H, Noren 0. Contribution to the 18qsyndrome. A patient with del(I8)(q22.3qter). CliG Geniet 1987;31:206-10.","journal-title":"CliG Geniet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1002\/ajmg.1320370130","article-title":"Neurological manifestations in 18qsyndrome","volume":"37","author":"Miller, G.; Mowrey, P.N.; Hopper, K.D.; Frankel, C.A.; Ladda, R.L.","year":"1990","unstructured":"Miller G, Mowrey PN, Hopper KD, Frankel CA, Ladda RL. Neurological manifestations in 18qsyndrome. Amn 7 Med Genet 1990;37:128-32.","journal-title":"Amn 7 Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1002\/ajmg.1320590414","article-title":"Analysis of clinical variation seen in patients with 18q terminal deletions","volume":"59","author":"Strathdee, G.; Zackai, E.H.; Shapiro, R.; Kamholz, J.; Overhauser, J.","year":"1995","unstructured":"Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J. Analysis of clinical variation seen in patients with 18q terminal deletions. Amn _7 Med Genet 1995;59:476-83.","journal-title":"Amn _7 Med Genet"},{"key":"ref_6","first-page":"60","article-title":"Distal 18q deletion without findings of 18qsyndrome","volume":"23","author":"Qazi, Q.H.; Madahar, C.; Alvi, S.; McGann, B.","year":"1980","unstructured":"Qazi QH, Madahar C, Alvi S, McGann B. Distal 18q deletion without findings of 18qsyndrome. Ann Genet 1980;23:60-2."},{"key":"ref_7","first-page":"895","article-title":"Molecular analysis of the 18qsyndrome and correlation with phenotype. Amn7 Hunm","volume":"52","author":"Kline, A.D.; White, M.E.; Wapner, R.","year":"1993","unstructured":"Kline AD, White ME, Wapner R, et al. Molecular analysis of the 18qsyndrome and correlation with phenotype. Amn7 Hunm Genet 1993;52:895-906.","journal-title":"Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1136\/jmg.33.3.240","article-title":"A new deletion of 18q23 with few typical features of the 18qsyndrome","volume":"33","author":"Kohonen-Corish, M.; Strathdee, G.; Overhauser, J.; McDonald, T.; Jammu, V.","year":"1996","unstructured":"Kohonen-Corish M, Strathdee G, Overhauser J, McDonald T, Jammu V. A new deletion of 18q23 with few typical features of the 18qsyndrome. 7 Med Genet 1996;33:240-3.","journal-title":"7 Med Genet"},{"key":"ref_9","article-title":"Extreme cytomegaly of the adrenal fetal cortex, omphalocoele, hyperplasia of the kidneys and pancreas and Leydig cell hyperplasia - another syndrome? Presented at the Annual Meeting of Western Society for Pediatric Research","author":"Beckwith, J.B.","year":"1963","unstructured":"Beckwith JB. Extreme cytomegaly of the adrenal fetal cortex, omphalocoele, hyperplasia of the kidneys and pancreas and Leydig cell hyperplasia - another syndrome? Presented at the Annual Meeting of Western Society for Pediatric Research, Los Angeles, California, 21 November 1963."},{"key":"ref_10","first-page":"232","article-title":"Complexe malformatif familial avec hernie ombilicale et macroglossie - un \"syndrome nouveau?\".7 Geiet Hunm","volume":"13","author":"Wiedemann, H.R.","year":"1964","unstructured":"Wiedemann HR. Complexe malformatif familial avec hernie ombilicale et macroglossie - un \"syndrome nouveau?\".7 Geiet Hunm 1964;13:232-3."},{"key":"ref_11","first-page":"560","volume":"31","author":"Elliott, M.; Maher, E.R.","year":"1994","unstructured":"Elliott M, Maher ER. Beckwith-Wiedemann syndrome.] Med Genet 1994;31:560-4.","journal-title":"Beckwith-Wiedemann syndrome.] Med Genet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1136\/jmg.29.4.221","article-title":"Evidence for parental imprinting in familial Beckwith-Wiedemann syndrome","volume":"29","author":"Viljoen, D.; Ramesar, R.","year":"1992","unstructured":"Viljoen D, Ramesar R. Evidence for parental imprinting in familial Beckwith-Wiedemann syndrome. _7 Med Geniet 1992;29:221-5.","journal-title":"_7 Med Geniet"},{"key":"ref_13","first-page":"720","article-title":"Genetic linkage of Beckwith-Wiedemann syndrome","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 1lp 15. Am 7 Hunm Genet 1989;44:720-3.","journal-title":"Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmg.30.5.353","article-title":"Le Bouc Y Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome","volume":"30","author":"Schneid, H.; Seurin, D.; Vazquez, M.P.; Gourmelen, M.; Cabrol, S.","year":"1993","unstructured":"Schneid H, Seurin D, Vazquez MP, Gourmelen M, Cabrol S, Le Bouc Y Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome. _7 Med Geniet 1993;30:353-62.","journal-title":"_7 Med Geniet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1038\/351665a0","article-title":"Uniparental paternal disomy in a cancer-predisposing syndrome","volume":"351","author":"Henry, I.; Bonaiti-Pellie, C.; Chehensse, V.","year":"1991","unstructured":"Henry I, Bonaiti-Pellie C, Chehensse V, et al. Uniparental paternal disomy in a cancer-predisposing syndrome. Nature 1991;351:665-7.","journal-title":"Nature"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1136\/jmg.31.10.749","article-title":"Mosaic uniparental disomy in Beckwith-Wiedemann syndrome","volume":"31","author":"Slatter, R.E.; Elliott, M.; Welham, K.","year":"1994","unstructured":"Slatter RE, Elliott M, Welham K, et al. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. _7 Med Genet 1994;31:749-53.","journal-title":"_7 Med Genet"},{"article-title":"Lack of reciprocity of imprinting of Hl9 and IGF2. Hum Mol Genet","author":"Joyce, J.; Lam, W.W.K.; Catchpoole, D.; Maher, E.R.; Schofield, P.N.","key":"ref_17","unstructured":"Joyce J, Lam WWK, Catchpoole D, Maher ER, Schofield PN. Lack of reciprocity of imprinting of Hl9 and IGF2. Hum Mol Genet (in press)."},{"issue":"14","key":"ref_18","first-page":"171","article-title":"An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome","volume":"1996","author":"Hatada, I.; Ohashi, H.; Fukushima, Y.","unstructured":"Hatada I, Ohashi H, Fukushima Y, et al. An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. Nat Genet 1996,14:171-3.","journal-title":"Nat Genet"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1093\/hmg\/3.8.1297","article-title":"Alleleic methylation of H 19 and IGF2 in the Beckwith-Wiedemann syndrome","volume":"3","author":"Reik, W.; Brown, K.W.; Slatter, R.E.; Sartori, P.; Elliott, M.; Maher, E.R.","year":"1994","unstructured":"Reik W, Brown KW, Slatter RE, Sartori P, Elliott M, Maher ER. Alleleic methylation of H 19 and IGF2 in the Beckwith-Wiedemann syndrome. Humn Mol Genet 1994;3: 1297-301.","journal-title":"Humn Mol Genet"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmg.34.5.353","article-title":"Epigenetic modification and uniparental inheritance of Hi9 in Beckwith-Wiedemann syndrome","volume":"34","author":"Catchpoole, D.; Lam, W.W.K.; Valler, D.","year":"1997","unstructured":"Catchpoole D, Lam WWK, Valler D, et al. Epigenetic modification and uniparental inheritance of Hi9 in Beckwith-Wiedemann syndrome. I Med Genet 1997;34:353-9.","journal-title":"I Med Genet"},{"key":"ref_21","first-page":"157","article-title":"Imprinted genes, alleleic methylation and imprinted modifiers of methylation. In: Genonic imnprinting: courses and conisequentces","author":"Reik, W.; Feil, R.; Nicholas, D.; Moore, N.; Walter, J.","year":"1995","unstructured":"Reik W, Feil R, Nicholas D, Moore N, Walter J. Imprinted genes, alleleic methylation and imprinted modifiers of methylation. In: Genonic imnprinting: courses and conisequentces. Cambridge: Cambridge University Press, 1995: 157-69."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"2123","DOI":"10.1093\/hmg\/3.12.2123","article-title":"Physical linkage of the fragile site FRA 1I B and a Jacobsen syndrome chromosome deletion breakpoint in lq23.3","volume":"3","author":"Jones, C.; Slijepcevic, P.; Marsh, S.","year":"1994","unstructured":"Jones C, Slijepcevic P, Marsh S, et al. Physical linkage of the fragile site FRA 1I B and a Jacobsen syndrome chromosome deletion breakpoint in lq23.3. Hunm Mol Genet 1994;3: 2123-30.","journal-title":"Hunm Mol Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.2.162","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:53:22Z","timestamp":1760738002000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.2.162"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,2]]},"references-count":22,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1998,2,1]]},"published-print":{"date-parts":[[1998,2]]}},"alternative-id":["10.1136\/jmg.35.2.162"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.2.162","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1998,2]]}}}