{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:15:26Z","timestamp":1760832926980,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,7]]},"abstract":"<jats:p>The clinical features and cytogenetic results of an 18 year old mentally handicapped female found to be a mosaic for a tandem duplication of chromosome 1 (46,XX,dup(1)(q12q22)\/46,XX) are reported. The case is compared with the three previously described cases and possible mechanisms for the origin of the duplication are discussed. This patient was not found to have features of Proteus syndrome which was previously reported in a subject mosaic for a tandem duplication involving chromosome (1)(q11q25).<\/jats:p>","DOI":"10.1136\/jmg.35.7.600","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"600-603","source":"Crossref","is-referenced-by-count":7,"title":["Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female."],"prefix":"10.1136","volume":"35","author":[{"given":"D","family":"de Silva","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Massie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Drummond","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Couzin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J C","family":"Dean","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1111\/j.1399-0004.1987.tb03322.x","article-title":"Tandem duplication (1)(ql lq22) in a male infant with multiple congenital malformations","volume":"32","author":"Mertens, F.; Johansson, B.; Forslund, M.; Olsson, M.; Kristoffersson, U.","year":"1987","unstructured":"Mertens F, Johansson B, Forslund M, Olsson M, Kristoffersson U. Tandem duplication (1)(ql lq22) in a male infant with multiple congenital malformations. Clin Genet 1987;32:46-8.","journal-title":"Clin Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1002\/ajmg.1320310434","article-title":"Report of a case resembling Proteus syndrome with a chromosome abnormality","volume":"31","author":"Say, B.; Carpenter, N.J.","year":"1988","unstructured":"Say B, Carpenter NJ. Report of a case resembling Proteus syndrome with a chromosome abnormality. Am Med Genet 1988;31:987-9.","journal-title":"Am Med Genet"},{"key":"ref_3","first-page":"96","article-title":"Selective deficiency of antibody responses to polysaccharide antigens in a child mosaic for partial trisomy 1","volume":"117","author":"Germain-Lee, E.; Schiffman, G.; Mules, E.; Lederman, H.","year":"1990","unstructured":"Germain-Lee E, Schiffman G, Mules E, Lederman H. Selective deficiency of antibody responses to polysaccharide antigens in a child mosaic for partial trisomy 1 [46,XX, dir dup (1)(ql2-*23)\/46,XX]. Pediatr 1990;117:96-9."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1002\/ajmg.1320470514","article-title":"Proteus syndrome: clinical evidence for somatic mosaicism and selective review","volume":"47","author":"MM, Jr, Cohen","year":"1993","unstructured":"Cohen MM Jr. Proteus syndrome: clinical evidence for somatic mosaicism and selective review. Am Med Genet 1993;47:645-52.","journal-title":"Am Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1007\/BF00291899","article-title":"Cutaneous manifestation of lethal genes","volume":"72","author":"Happle, R.","year":"1986","unstructured":"Happle R. Cutaneous manifestation of lethal genes. Hum Genet 1986;72:280.","journal-title":"Hum Genet"},{"key":"ref_6","first-page":"167","article-title":"Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21","volume":"88","author":"Blouin, J.L.; Aurias, A.; Creau-Goldberg, N.","year":"1991","unstructured":"Blouin JL, Aurias A, Creau-Goldberg N, et al. Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21. Hum Genet 1991;88:167-74.","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.35.7.600","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:16:00Z","timestamp":1760768160000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.7.600"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,7]]},"references-count":6,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1998,7,1]]},"published-print":{"date-parts":[[1998,7]]}},"alternative-id":["10.1136\/jmg.35.7.600"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.7.600","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1998,7]]}}}