{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:41:14Z","timestamp":1759725674280,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,4]]},"abstract":"<jats:p>A child with characteristic clinical features of Down's syndrome and raised red cell SOD-1 activity was found to have, in addition to a single chromosome 21, a reverse dicentric tandem translocation of two No 21s with dual NORs and C band regions. The breakpoints on the chromosomes involved in the translocation were at the most distal end of the long arms (21q223). The phenotypically normal mother carried a rare variant of a chromosome 9.<\/jats:p>","DOI":"10.1136\/jmg.17.2.144","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"144-148","source":"Crossref","is-referenced-by-count":18,"title":["Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother."],"prefix":"10.1136","volume":"17","author":[{"given":"J M","family":"Berg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H A","family":"Gardner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R J","family":"Gardner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E G","family":"Goh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V D","family":"Markovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N E","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R G","family":"Worton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,4,1]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"Mongolism in newborns: a clinical and cytogenetic study","volume":"154","author":"B, I.Hall","year":"1964","unstructured":"I Hall B. Mongolism in newborns: a clinical and cytogenetic study. Acta Paediatr Scand (Suppl) 1964;154:1-95.","journal-title":"Acta Paediatr Scand (Suppl)"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1016\/S0031-3955(16)30666-6","article-title":"The use of dermal configurations in the diagnosis of mongolism","volume":"5","author":"Walker, N.F.","year":"1958","unstructured":"Walker NF. The use of dermal configurations in the diagnosis of mongolism. Pediatr Clin North Am 1958; 5: 531-43.","journal-title":"Pediatr Clin North Am"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1016\/S0022-3476(70)80087-7","article-title":"Dermatoglyphic nomogram for the diagnosis of Down's syndrome","volume":"77","author":"s Reed TE; DS, Borgaonkar; PM, Conneally; P, Yu; WE, Nance; JC, Christian","year":"1970","unstructured":"s Reed TE, Borgaonkar DS, Conneally PM, Yu P, Nance WE, Christian JC. Dermatoglyphic nomogram for the diagnosis of Down's syndrome. JPediatr 1970;77: 1024-32.","journal-title":"JPediatr"},{"key":"ref_4","first-page":"\"de\" # \"1197","article-title":"An improved technique for selective silver staining of nucleolar organizer regions in mammalian chromosomes. Hum Genet 1976; 34","volume":"53","author":"Bloom, S.E.; Goodpasture, C.","year":"1974","unstructured":"Bloom SE, Goodpasture C. An improved technique for selective silver staining of nucleolar organizer regions in mammalian chromosomes. Hum Genet 1976; 34:199-206. de Chatelet LR, McCall CE, McPhail LC, Johnston RB Jr. Superoxide dismutase activity in leucocytes. J Clin Invest 1974;53:1197-201.","journal-title":"J Clin Invest; Superoxide dismutase activity in leucocytes"},{"key":"ref_5","first-page":"153","article-title":"The dosage effects of superoxide dismutase in trisomy 21 and nucleosidephosphorylase (NP) in trisomy 14. Abst VInt Cong Hum","volume":"1976","author":"s Simpson NE; M, Frecker","unstructured":"s Simpson NE, Frecker M. The dosage effects of superoxide dismutase in trisomy 21 and nucleosidephosphorylase (NP) in trisomy 14. Abst VInt Cong Hum Genet 1976:153.","journal-title":"Genet"},{"key":"ref_6","first-page":"15","article-title":"Partial trisomy 21-further evidence that trisomy of band 21q22 is essential for Down's phenotype","volume":"38","author":"Hagemeijer, A.; Smit, E.M.E.","year":"1977","unstructured":"Hagemeijer A, Smit EME. Partial trisomy 21-further evidence that trisomy of band 21q22 is essential for Down's phenotype. Hum Genet 1977;38:15-23.","journal-title":"Hum Genet"},{"key":"ref_7","first-page":"\"47","article-title":"Exp Cell Res","volume":"97","author":"de la Chapelle A; J, Schroder; K, Stenstrand; J, Fellman; R, Herva; M, Saarni; I, Anttolainen; I, Tallila; L, Tervila; L, Husa; G, Tallqvist; EB, Robson; PJL, Cook; R, Sanger","year":"1976","unstructured":"Exp Cell Res 1976;97:47-55. 9 de la Chapelle A, Schroder J, Stenstrand K, Fellman J, Herva R, Saarni M, Anttolainen I, Tallila I, Tervila L, Husa L, Tallqvist G, Robson EB, Cook PJL, Sanger R. Pericentric inversions of human chromosomes 9 and 10. Am J Hum Genet 1974;26:746\"66.","journal-title":"Pericentric inversions of human chromosomes 9 and; Am J Hum Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.17.2.144","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:20:28Z","timestamp":1759724428000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.17.2.144"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,4]]},"references-count":7,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1980,4,1]]},"published-print":{"date-parts":[[1980,4]]}},"alternative-id":["10.1136\/jmg.17.2.144"],"URL":"https:\/\/doi.org\/10.1136\/jmg.17.2.144","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1980,4]]}}}