{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:11:59Z","timestamp":1760832719550,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,2]]},"abstract":"<jats:p>We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb anomalies. Chromosome studies showed a recombinant chromosome 7, rec(7) dup p, resulting from a maternal pericentric inversion inv(7)(p15 q36). Thus, this child had partial trisomy 7p in addition to a small distal monosomy 7. The clinical findings are compared with those found in previous reports of trisomy 7p. Finally, some general principles for genetic counselling are discussed.<\/jats:p>","DOI":"10.1136\/jmg.28.2.126","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"126-127","source":"Crossref","is-referenced-by-count":14,"title":["A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36)."],"prefix":"10.1136","volume":"28","author":[{"given":"A","family":"Delicado","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Escribano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Lopez Pajares","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Diaz de Bustamante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Carrasco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1159\/000130849","article-title":"Meiotic analysis of a pericentric inversion, inv (7)(p22q32), in the father of a child with a duplication-deletion of chromosome 7","volume":"20","author":"Winsor, E.J.T.; Palmer, C.G.; Ellis, P.M.; Hunter, J.L.P.; FergusonSmith, M.A.","year":"1978","unstructured":"Winsor EJT, Palmer CG, Ellis PM, Hunter JLP, FergusonSmith MA. Meiotic analysis of a pericentric inversion, inv (7)(p22q32), in the father of a child with a duplication-deletion of chromosome 7. Cytogenet Cell Genet 1978;20:169-84.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_2","first-page":"364","article-title":"Emerging phenotype of duplication ( 7p): a report of three cases and review of the literature","volume":"33","author":"Milunsky, J.M.; Wyandt, H.E.; Milunsky, A.","year":"1989","unstructured":"Milunsky JM, Wyandt HE, Milunsky A. Emerging phenotype of duplication (7p): a report of three cases and review of the literature. Am J Med 1989;33:364-8.","journal-title":"Am J Med"},{"key":"ref_3","first-page":"202","article-title":"Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp (7; 14Xpll","volume-title":"pl 1). Clin Genet","volume":"14","author":"Carnevale, A.; Frias, S.; del Castillo, V.","year":"1978","unstructured":"Carnevale A, Frias S, del Castillo V. Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp (7;14Xpll;pl 1). Clin Genet 1978;14:202-6."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1002\/ajmg.1320270323","article-title":"Duplication 7p in a family with t(7; 11): association with anomalies of the anterior cranial base","volume":"27","author":"Odell, J.M.; Siebert, JR, Bradley; C, Salk; D.","year":"1987","unstructured":"Odell JM, Siebert JR, Bradley C, Salk D. Duplication 7p in a family with t(7;11): association with anomalies of the anterior cranial base. Am J Med Genet 1987;27:687-92.","journal-title":"Am J Med Genet"},{"key":"ref_5","first-page":"225","article-title":"Duplication 7p de novo and literature review","volume":"32","author":"Zerres, K.; Schwanitz, G.; Gellissen, K.; Schoers, L.; Sohler, R.","year":"1989","unstructured":"Zerres K, Schwanitz G, Gellissen K, Schoers L, Sohler R. Duplication 7p de novo and literature review. Ann Genet (Paris) 1989;32:225-9.","journal-title":"Ann Genet (Paris)"},{"key":"ref_6","first-page":"242","volume":"7","author":"Turleau, C.; de Grouchy, J.; Pergnon, F.; Lenoir, G.","year":"1979","unstructured":"Turleau C, de Grouchy J, Pergnon F, Lenoir G. Monosonie 7 qter. Ann Genet (Paris) 1979;22:242-4.","journal-title":"Monosonie"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1111\/j.1399-0004.1986.tb00575.x","article-title":"Segregation analysis of balanced pericentric inversions in pedigree data","volume":"30","author":"Sherman, S.L.; Iselius, L.; Gallano, P.","year":"1986","unstructured":"Sherman SL, Iselius L, Gallano P, et al. Segregation analysis of balanced pericentric inversions in pedigree data. Clin Genet 1986;30:87-94.","journal-title":"Clin Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1007\/BF00274687","article-title":"Structural difference in pericentric inversions. Application to a model of risk of recombinants","volume":"56","author":"Daniel, A.","year":"1981","unstructured":"Daniel A. Structural difference in pericentric inversions. Application to a model of risk of recombinants. Hum Genet 1981;56:321-8.","journal-title":"Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.2.126","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:10:42Z","timestamp":1760764242000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.2.126"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,2]]},"references-count":8,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1991,2,1]]},"published-print":{"date-parts":[[1991,2]]}},"alternative-id":["10.1136\/jmg.28.2.126"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.2.126","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1991,2]]}}}