{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:45:23Z","timestamp":1764171923705,"version":"build-2065373602"},"reference-count":11,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1984,8]]},"abstract":"<jats:p>An account is given of the cytogenetic investigations of a girl with Down's syndrome found to have a dicentric duplication of chromosome 21. This tandem type of rearrangement was interpreted as a recombinant derived from a single meiotic crossover between a maternal ring 21 and its normal homologue. A population of cells was also found in which breakage of the dicentric resulted in a chromosome 21 with a small terminal deletion. The mother and the proband's younger brother, who was also a ring 21 heterozygote, were both clinically normal.<\/jats:p>","DOI":"10.1136\/jmg.21.4.310","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"310-314","source":"Crossref","is-referenced-by-count":13,"title":["Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring."],"prefix":"10.1136","volume":"21","author":[{"given":"R T","family":"Howell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"McDermott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Gardner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Dickinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1984,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1136\/jmg.18.3.209","article-title":"Inheritance of a ring 14 chromosome","volume":"18","author":"S, Bowser Riley; KE, Buckton; SG, Ratcliffe; J, Syme","year":"1981","unstructured":"Bowser Riley S, Buckton KE, Ratcliffe SG, Syme J. Inheritance of a ring 14 chromosome. J Med Genet 1981; 18:209-13.","journal-title":"J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1136\/jmg.14.1.54","article-title":"Four new cases of ring 21 and 22 including familial transmission of ring 21","volume":"14","author":"Palmer, C.G.; Hodes, M.E.; Reed, T.; Kojetin, J.","year":"1977","unstructured":"Palmer CG, Hodes ME, Reed T, Kojetin J. Four new cases of ring 21 and 22 including familial transmission of ring 21. J Med Genet 1977;14:54-60.","journal-title":"J Med Genet"},{"key":"ref_3","first-page":"294","article-title":"Segregation of a 22 ring chromosome in three generations","volume":"63","author":"Stoll, C.; Roth, M.P.","year":"1983","unstructured":"Stoll C, Roth MP. Segregation of a 22 ring chromosome in three generations. Hum Genet 1983;63:294-6.","journal-title":"Hum Genet"},{"key":"ref_4","first-page":"\"73","article-title":"Partial monosomy for a 21 chromosome. Report of a new case of r(21) and a review of the literature","volume":"38","author":"Ferrante, E.; Vignetti, P.; Antonelli, M.; Bruni, L.; Bertasi, S.; Chessa, L.","year":"1983","unstructured":"Ferrante E, Vignetti P, Antonelli M, Bruni L, Bertasi S, Chessa L. Partial monosomy for a 21 chromosome. Report of a new case of r(21) and a review of the literature. Helv Paediatr Acta 1983;38:73-80. leshima A, Ogasawara N, Yamamoto Y, Kuroki Y. A case of r(21) with stigmata of atypical Down syndrome. Hum Genet 1980;55:65-9.","journal-title":"Helv Paediatr Acta; A case of r(21) with stigmata of atypical Down syndrome"},{"key":"ref_5","first-page":"699","article-title":"Chromosome 3, duplication of q21 to qter, deletion p25 to pter, syndrome in children of carriers of a pericentric inversion inv(3) (p25q21)","volume":"27","author":"Allerdice, P.W.; Browne, N.; Murphy, D.P.","year":"1975","unstructured":"Allerdice PW, Browne N, Murphy DP. Chromosome 3, duplication of q21 to qter, deletion p25 to pter, syndrome in children of carriers of a pericentric inversion inv(3) (p25q21). Am J Hum Genet 1975;27:699-718.","journal-title":"Am J Hum Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1136\/jmg.18.4.307","article-title":"A 5; 7, 5; 12 double reciprocal translocation in a normal mother and a 5; 7 translocation with a recombinant chromosome 5 in her normal child","volume":"18","author":"Tabor, A.; Jensen, L.K.; Lundsteen, C.; Niebuhr, E.","year":"1981","unstructured":"Tabor A, Jensen LK, Lundsteen C, Niebuhr E. A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child. J Med Genet 1981;18:307-9.","journal-title":"J Med Genet"},{"key":"ref_7","first-page":"309","article-title":"An international system for human cytogenetic nomenclature. Birth Defects 1978; XIV: No 8","volume":"21","author":"I.S.C.N.","year":"1978","unstructured":"ISCN. An international system for human cytogenetic nomenclature. Birth Defects 1978;XIV:No 8. Cytogenet Cell Genet 1978;21:309-404.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1093\/oxfordjournals.jhered.a108522","article-title":"Milledgeville mongoloid: a rare karyotype of Down's syndrome","volume":"65","author":"Jernigan, D.; Curl, N.; Keeler, C.","year":"1974","unstructured":"Jernigan D, Curl N, Keeler C. Milledgeville mongoloid: a rare karyotype of Down's syndrome. J Hered 1974;65: 254-7.","journal-title":"J Hered"},{"key":"ref_9","first-page":"99","article-title":"Down's syndrome. The possibility of a pathogenetic segment on chromosome No 21","volume-title":"Humangenetik","volume":"21","author":"Niebuhr, E.","year":"1974","unstructured":"Niebuhr E. Down's syndrome. The possibility of a pathogenetic segment on chromosome No 21. Humangenetik 1974;21:99-101."},{"key":"ref_10","first-page":"514","article-title":"Tandem translocation of No 21 chromosome in a patient with","volume-title":"atypical Down syndrome. Proc Jpn Acad 1980","volume":"56","author":"Karukaya, S.; Yokoyama, H.","unstructured":"Karukaya S, Yokoyama H. Tandem translocation of No 21 chromosome in a patient with atypical Down syndrome. Proc Jpn Acad 1980;56(B):514-8."},{"key":"ref_11","first-page":"255","article-title":"Identification of G-group chromosomes involved in a G\/G tandem-translocation by the Giemsaband technique","volume":"14","author":"Vogel, W.","year":"1972","unstructured":"Vogel W. Identification of G-group chromosomes involved in a G\/G tandem-translocation by the Giemsaband technique. Humangenetik 1972;14:255-6.","journal-title":"Humangenetik"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.21.4.310","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:41:16Z","timestamp":1760737276000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.21.4.310"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,8]]},"references-count":11,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1984,8,1]]},"published-print":{"date-parts":[[1984,8]]}},"alternative-id":["10.1136\/jmg.21.4.310"],"URL":"https:\/\/doi.org\/10.1136\/jmg.21.4.310","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1984,8]]}}}