{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:49:01Z","timestamp":1760906941063,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,2]]},"abstract":"<jats:p>Three cases of partial trisomy 7q are described. One case had duplication of region 7q22.1----q31.2 owing to a de novo direct intra-arm intrachromosomal duplication. The other two cases, first cousins, were trisomic for 7q34----qter, resulting from recombination within the inserted segment of a dir ins(7;17)(q34;q23.1q25.3)mat. All three cases had a number of the already recorded manifestations of partial trisomy 7q, namely strabismus, low set ears, depressed nasal bridge, small nose, hypotonia, and mental retardation.<\/jats:p>","DOI":"10.1136\/jmg.27.2.109","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"109-113","source":"Crossref","is-referenced-by-count":33,"title":["Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7."],"prefix":"10.1136","volume":"27","author":[{"given":"D R","family":"Romain","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Cairney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L M","family":"Columbano-Green","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Garry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M I","family":"Parslow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Parfitt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R H","family":"Smythe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C J","family":"Chapman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1002\/ajmg.1320250310","article-title":"Duplication of 7q31.2-*7qter and deficiency of 18qter: report of two patients and literature review","volume":"25","author":"Johnson, D.; Aas, Michels V.?; M, Dewald; G.","year":"1986","unstructured":"Johnson D, Michels V? Aas M, Dewald G. Duplication of 7q31.2-*7qter and deficiency of 18qter: report of two patients and literature review. Am Med Genet 1986;25:477-88.","journal-title":"Am Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1136\/jmg.23.5.461","article-title":"Partial trisomy 7 (q32-*qter) syndrome in two children","volume":"23","author":"Couzin, D.A.; Haites, N.; Watt, J.L.; Johnston, A.W.","year":"1986","unstructured":"Couzin DA, Haites N, Watt JL, Johnston AW. Partial trisomy 7 (q32-*qter) syndrome in two children. Med Genet 1986;23: 461-5.","journal-title":"Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1111\/j.1399-0004.1988.tb02615.x","article-title":"The phenotype of partial dup (7q) reconsidered: a report of five new cases","volume":"34","author":"Forabosco, A.; Baroncini, A.; Dalpra, L.","year":"1988","unstructured":"Forabosco A, Baroncini A, Dalpra L, et al. The phenotype of partial dup (7q) reconsidered: a report of five new cases. Clin Genet 1988;34:48-59.","journal-title":"Clin Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/jmg.19.2.148","article-title":"A case of inverted insertion assessed by R and G banding","volume":"19","author":"de Arce MA; E, Law; L, Martin; JG, Masterton","year":"1982","unstructured":"de Arce MA, Law E, Martin L, Masterton JG. A case of inverted insertion assessed by R and G banding. Med Genet 1982;19: 148-51.","journal-title":"Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1002\/ajmg.1320310209","article-title":"Insertional translocations: report of two new families and review of the literature","volume":"31","author":"Abuelo, D.N.; Barsel-Bowers, G.; Richardson, A.","year":"1988","unstructured":"Abuelo DN, Barsel-Bowers G, Richardson A. Insertional translocations: report of two new families and review of the literature. Am Med Genet 1988;31:319-29.","journal-title":"Am Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1136\/jmg.12.4.418","article-title":"Partial trisomy for the long arms of chromosome No 5 due to insertion and further 'aneusomie de recombinaison","volume":"12","author":"Jalbert, P.; Jalbert, H.; Sele, B.","year":"1975","unstructured":"Jalbert P, Jalbert H, Sele B, et al. Partial trisomy for the long arms of chromosome No 5 due to insertion and further 'aneusomie de recombinaison. Med Genet 1975;12:418-23.","journal-title":"Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.2.109","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:52:15Z","timestamp":1759686735000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.2.109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,2]]},"references-count":6,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1990,2,1]]},"published-print":{"date-parts":[[1990,2]]}},"alternative-id":["10.1136\/jmg.27.2.109"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.2.109","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1990,2]]}}}