{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,14]],"date-time":"2025-12-14T11:44:42Z","timestamp":1765712682166,"version":"3.48.0"},"reference-count":20,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"published-print":{"date-parts":[[1988,4]]},"abstract":"<jats:p>A two year old girl with Down's syndrome (constitutional karyotype: 47 + 21), presenting with pancytopenia, developed acute megakaryoblastic leukaemia (AMKL). Her bone marrow contained an abnormal clone with a novel dicentric chromosome derived from chromosomes 5 and 7 (karyotype 46, XX, -5, -7, +dic (5;7) (p 13; p 11.2), +21. This case provides further evidence for a connection between chromosome 21 and this unusual form of childhood leukaemia, and raises questions about the loss of short arm material from chromosomes 5 and 7 compared with the more usual monosomy or long arm loss.<\/jats:p>","DOI":"10.1136\/jcp.41.4.378","type":"journal-article","created":{"date-parts":[[2007,6,9]],"date-time":"2007-06-09T00:50:46Z","timestamp":1181350246000},"page":"378-380","source":"Crossref","is-referenced-by-count":11,"title":["Dicentric chromosome in the bone marrow of a child with megakaryoblastic leukaemia and Down's syndrome."],"prefix":"10.1136","volume":"41","author":[{"given":"A O","family":"Wilkie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Kitchen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Oakhill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R T","family":"Howell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P J","family":"Berry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"460","DOI":"10.7326\/0003-4819-103-3-460","article-title":"Criteria for the diagnosis of acute leukaemia of megakaryocyte lineage (M7). 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Cancer Genet Cytogenet 1984;11:296-9.","journal-title":"Fourth International Workshop on Chromosomes in Leukemia; Cancer Genet Cytogenet"},{"key":"ref_19","first-page":"300","article-title":"deletion of the long arm (7q -","volume":"11","year":"1982","unstructured":"Fourth International Workshop on Chromosomes in Leukemia, 1982. Abnormalities ofchromosome 7 resulting in monosomy 7 or in deletion of the long arm (7q - ): review of translocations, breakpoints, and associated abnormalities. Cancer Genet Cytogenet 1984;11:300-3.","journal-title":"Fourth International Workshop on Chromosomes in Leukemia; Cancer Genet Cytogenet; review of translocations, breakpoints, and associated abnormalities"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/0165-4608(86)90113-5","article-title":"Leukemia in a trisomy 21 mosaic: specific involvement of the trisomic cells","volume":"20","author":"Ferster, A.; Verhest, A.; Vamos, E.; De Maertelaere, E.; Otten, J.","year":"1986","unstructured":"Ferster A, Verhest A, Vamos E, De Maertelaere E, Otten J. Leukemia in a trisomy 21 mosaic: specific involvement of the trisomic cells. 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