{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:40:15Z","timestamp":1760766015465,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,10]]},"abstract":"<jats:p>A three generation pedigree is described in which there are two carriers of translocation t(7;18). Two members of the family have trisomy 18p and a stillborn child had monosomy 18p and holoprosencephaly. Another stillborn child probably had holoprosencephaly; the karyotype was not analysed. Based on this observation, the occasional occurrence of holoprosencephaly in monosomy 18p (10% of previously reported cases) may not be the result of the expression of a recessive mutant gene in the hemizygous state, as assumed up to now.<\/jats:p>","DOI":"10.1136\/jmg.20.5.377","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"377-379","source":"Crossref","is-referenced-by-count":13,"title":["Monosomy 18p and pure trisomy 18p in a family with translocation (7;18)."],"prefix":"10.1136","volume":"20","author":[{"given":"M","family":"Habedank","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Trost-Brinkhues","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1983,10,1]]},"reference":[{"key":"ref_1","first-page":"1","volume":"52","author":"Chromosomenaberrationen, Schinzel A.Autosomale","year":"1979","unstructured":"Schinzel A. Autosomale Chromosomenaberrationen. Arch Genet (Zlur) 1979;52:1-204.","journal-title":"Arch Genet (Zlur)"},{"issue":"15","key":"ref_2","first-page":"473","article-title":"Short arm deletion of chromosome 18 in cebocephaly","volume":"1","author":"Gorlin, R.J.; Yunis, J.J.; Anderson, V.E.","year":"1968","unstructured":"Gorlin RJ, Yunis JJ, Anderson VE. Short arm deletion of chromosome 18 in cebocephaly. Anm J Dis Child 1968;1 15: 473-6.","journal-title":"Anm J Dis Child"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1111\/j.1399-0004.1980.tb01359.x","article-title":"Trisomy 18q-. Trisomy mapping of chromosome 18 revisited","volume":"18","author":"Turleau, C.; Chavin-Colin, F.; Narbouton, R.; Asensi, D.; de Grouchy, J.","year":"1980","unstructured":"Turleau C, Chavin-Colin F, Narbouton R, Asensi D, de Grouchy J. Trisomy 18q-. Trisomy mapping of chromosome 18 revisited. Clin Genet 1980;18:20-6.","journal-title":"Clin Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/BF00277574","article-title":"Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p","volume":"45","author":"Serville, F.; Junien, C.; Kaplan, J.C.; Gachet, M.; Cadoux, J.; Broustet, A.","year":"1978","unstructured":"Serville F, Junien C, Kaplan JC, Gachet M, Cadoux J, Broustet A. Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p. Huom Genet 1978;45:63-9.","journal-title":"Huom Genet"},{"key":"ref_5","first-page":"195","article-title":"Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric inversion, with a note for genetic counselling","volume":"53","author":"Teyssier, JR, Bajolle; F.","year":"1980","unstructured":"Teyssier JR, Bajolle F. Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric inversion, with a note for genetic counselling. Hum Genet 1980;53:195-200.","journal-title":"Hum Genet"},{"key":"ref_6","first-page":"185","article-title":"Recombinant chromosome 18 in two offspring of a chromosome 18 inversion heterozygote","volume":"25","author":"Andrews, T.; Gardiner, A.C.; Boon, A.R.","year":"1982","unstructured":"Andrews T, Gardiner AC, Boon AR. Recombinant chromosome 18 in two offspring of a chromosome 18 inversion heterozygote. Ann Genet (Paris) 1982;25:185-8.","journal-title":"Ann Genet (Paris)"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1136\/jmg.16.1.69","article-title":"Extra small metacentric chromosome identified as i(l 8p)","volume":"16","author":"Rocchi, M.; Stormi, M.; Archidiacono, N.; Filippi, G.","year":"1979","unstructured":"Rocchi M, Stormi M, Archidiacono N, Filippi G. Extra small metacentric chromosome identified as i(l 8p). J Med Genet 1979;16:69-80.","journal-title":"J Med Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/BF00569715","article-title":"The crucial band for phenotype of trisomy 18","volume":"60","author":"Mucke, J.; Trautmann, U.; Sandig, K.R.; Theile, H.","year":"1982","unstructured":"Mucke J, Trautmann U, Sandig KR, Theile H. The crucial band for phenotype of trisomy 18. Hiuml Genet 1982;60:205.","journal-title":"Hiuml Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.20.5.377","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:13:31Z","timestamp":1760764411000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.20.5.377"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,10]]},"references-count":8,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1983,10,1]]},"published-print":{"date-parts":[[1983,10]]}},"alternative-id":["10.1136\/jmg.20.5.377"],"URL":"https:\/\/doi.org\/10.1136\/jmg.20.5.377","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1983,10]]}}}