{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:57:27Z","timestamp":1761101847496,"version":"build-2065373602"},"reference-count":11,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,1]]},"abstract":"<jats:p>The parental origin of the de novo deleted chromosome 4 was studied in five cases of Wolf-Hirschhorn syndrome using polymorphic probes mapping in the 4p16.3 region. In all the patients the deleted chromosome was found to be of paternal origin and these results, together with similar ones obtained by another group, make the preferential paternal origin of the de novo chromosome 4 deletion highly significant.<\/jats:p>","DOI":"10.1136\/jmg.29.1.53","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"53-55","source":"Crossref","is-referenced-by-count":27,"title":["Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome."],"prefix":"10.1136","volume":"29","author":[{"given":"R","family":"Tupler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Bortotto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E M","family":"B\u00fchler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Alkan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N J","family":"Malik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"B\u00f6sch-Al Jadooa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Memo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Maraschio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1992,1,1]]},"reference":[{"key":"ref_1","first-page":"857","article-title":"Genomic imprinting: review and relevance to human disease","volume":"46","author":"Hall, J.G.","year":"1990","unstructured":"Hall JG. Genomic imprinting: review and relevance to human disease. Am J Hum Genet 1990;46:857-73.","journal-title":"Am J Hum Genet"},{"key":"ref_2","article-title":"Birth defects encyclopedia","author":"Buyse, M.L.","year":"1990","unstructured":"Buyse ML. Birth defects encyclopedia. New York: Center for Birth Defects Information Services, 1990."},{"key":"ref_3","first-page":"935","article-title":"High resolution R and G banding on the same preparation","volume":"57","author":"Dutrillaux, B.; Viegas-Pequignot, E.","year":"1981","unstructured":"Dutrillaux B, Viegas-Pequignot E. High resolution R and G banding on the same preparation. Hum Genet 1981;57:935.","journal-title":"Hum Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/0003-2697(83)90418-9","article-title":"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity","volume":"132","author":"Feinberg, A.; Vogelstein, B.","year":"1983","unstructured":"Feinberg A, Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 1983;132:6-13.","journal-title":"Anal Biochem"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1159\/000133000","article-title":"Report of the committee on the genetic constitution of chromosome 4. HGM 10.5","volume":"55","author":"Murray, J.C.; Van Ommen, J.C.","year":"1990","unstructured":"Murray JC, Van Ommen JC. Report of the committee on the genetic constitution of chromosome 4. HGM 10.5. Cytogenet Cell Genet 1990;55:97-1 10.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1007\/BF01876498","article-title":"The critical monosomic segment involved in 4psyndrome: a high resolution banding study of five inherited cases","volume":"29","author":"Narahara, K.; Himoto, Y.; Yokoyama, Y.","year":"1984","unstructured":"Narahara K, Himoto Y, Yokoyama Y, et al. The critical monosomic segment involved in 4psyndrome: a high resolution banding study of five inherited cases. Jpn J Hum Genet 1984;29:403-13.","journal-title":"Jpn J Hum Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1136\/jmg.24.7.410","article-title":"Wolf-Hirschhorn locus is distal to D4SIO on short arm of chromosome 4","volume":"24","author":"McKeown, C.; Read, P.; Dodge, A.","year":"1987","unstructured":"McKeown C, Read P, Dodge A, et al. Wolf-Hirschhorn locus is distal to D4SIO on short arm of chromosome 4. J Med Genet 1987;24:410-12.","journal-title":"J Med Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1136\/jmg.28.4.256","article-title":"Paternal origin of the chromosomal deletion resulting in the Wolf-Hirschhom syndrome","volume":"28","author":"Quarrell, O.W.J.; Snell, R.G.; Curtis, M.A.; Roberts, S.H.; Harper, P.S.; Shaw, D.J.","year":"1991","unstructured":"Quarrell OWJ, Snell RG, Curtis MA, Roberts SH, Harper PS, Shaw DJ. Paternal origin of the chromosomal deletion resulting in the Wolf-Hirschhom syndrome. J Med Genet 1991;28:256-9.","journal-title":"J Med Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1002\/ajmg.1320350307","article-title":"Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin and clinical consequences","volume":"35","author":"Magenis, R.E.; Toth-Fejel, S.; Allen, L.J.","year":"1990","unstructured":"Magenis RE, Toth-Fejel S, Allen LJ, et al. Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin and clinical consequences. Am J Med Genet 1990;35:333-49.","journal-title":"Am J Med Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/0168-9525(89)90138-8","article-title":"Genomic imprinting and genetic disorders in man","volume":"5","author":"Reik, W.","year":"1989","unstructured":"Reik W. Genomic imprinting and genetic disorders in man. Trends Genet 1989;5:331-6.","journal-title":"Trends Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1136\/jmg.25.12.805","article-title":"Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea","volume":"25","author":"Reik, W.","year":"1988","unstructured":"Reik W. Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea. J Med Genet 1988;25:805-8.","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.29.1.53","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:02:09Z","timestamp":1760774529000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.29.1.53"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,1]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1992,1,1]]},"published-print":{"date-parts":[[1992,1]]}},"alternative-id":["10.1136\/jmg.29.1.53"],"URL":"https:\/\/doi.org\/10.1136\/jmg.29.1.53","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1992,1]]}}}