{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:10:24Z","timestamp":1760735424176,"version":"build-2065373602"},"reference-count":23,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1985,10]]},"abstract":"<jats:p>We describe the clinical and cytogenetic findings of a 9 1\/2 month old girl with a complex chromosome rearrangement resulting in a probable deletion of band 2p14. She does not resemble other reported cases of del(2p).<\/jats:p>","DOI":"10.1136\/jmg.22.5.401","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"401-405","source":"Crossref","is-referenced-by-count":2,"title":["Partial 2p deletion in a girl with a complex chromosome rearrangement involving chromosomes 2, 6, 11, and 21."],"prefix":"10.1136","volume":"22","author":[{"given":"R S","family":"Young","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Medrano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K L","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1985,10,1]]},"reference":[{"key":"ref_1","first-page":"208","article-title":"Chronic granulocytic leukaemia; epidemiology and aetiology. pathogenesis, cytogenetics, in vitro studies and clinical features","author":"Richman, C.M.; Rowley, J.D.; Golomb, H.M.","year":"1984","unstructured":"Richman CM, Rowley JD, Golomb HM. Chronic granulocytic leukaemia; epidemiology and aetiology. pathogenesis, cytogenetics, in vitro studies and clinical features. In: Goldman JM, ed. Leukaemias. London: Butterworths, 1984:208-39."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1016\/S0025-7125(16)31845-4","article-title":"Chronic granulocytic leukemia","volume":"60","author":"Canellos, G.P.","year":"1976","unstructured":"Canellos GP. Chronic granulocytic leukemia. Med Clin North Am 1976;60:1001-8.","journal-title":"Med Clin North Am"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/S0065-230X(08)60423-6","article-title":"Chromosome abnormalities in malignant hematologic diseases","volume":"36","author":"Rowley, J.D.; Testa, JR","year":"1982","unstructured":"Rowley JD, Testa JR. Chromosome abnormalities in malignant hematologic diseases. Adv Cancer Res 1982;36:103-48.","journal-title":"Adv Cancer Res"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/0165-4608(81)90017-0","article-title":"Unusual translocation and chronic myelocytic leukemia: 'masked' Philadelphia chromosome (Ph')","volume":"4","author":"Lassard, M.; Duval, S.; Fritz, A.","year":"1981","unstructured":"Lassard M, Duval S, Fritz A. Unusual translocation and chronic myelocytic leukemia: 'masked' Philadelphia chromosome (Ph'). Cancer Genet Cytogenet 1981;4:237-44.","journal-title":"Cancer Genet Cytogenet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1182\/blood.V56.5.812.812","article-title":"Late appearing Philadelphia chromosome in two patients with chronic myelogenous leukemia","volume":"56","year":"1980","unstructured":"Lisker RL, Casas L, Mutchinick 0, Perez Chavaz F, Labardini J. Late appearing Philadelphia chromosome in two patients with chronic myelogenous leukemia. Blood 1980;56:812.","journal-title":"Blood"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/306277a0","article-title":"Translocation of Cabl oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia","volume":"306","author":"Bartram, C.R.; Klein, A.; Hagemijer, A.","year":"1983","unstructured":"Bartram CR, Klein A, Hagemijer A, et al. Translocation of Cabl oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia. Nature 1983;306:277-80.","journal-title":"Nature"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1038\/306239a0","article-title":"Localization of the c-abl oncogene adjacent to a translocation break point in chronic myelocytic leukaemia","volume":"306","author":"Heisterkamp, N.; Stephenson, JR, Groffen; J.","year":"1983","unstructured":"Heisterkamp N, Stephenson JR, Groffen J, et al. Localization of the c-abl oncogene adjacent to a translocation break point in chronic myelocytic leukaemia. Nature 1983;306:239-42.","journal-title":"Nature"},{"key":"ref_8","first-page":"265","article-title":"Philadelphia chromosome negative chronic myelogenous leukemia in a child with t(8; 9)(pll or 12; q34)","volume":"5","author":"Lewis, J.P.; Jenks, H.; Lazerson, J.","year":"1983","unstructured":"Lewis JP, Jenks H, Lazerson J. Philadelphia chromosome negative chronic myelogenous leukemia in a child with t(8;9)(pll or 12;q34). Am J Pediatr Hematol Oncol 1983;5: 265-9.","journal-title":"Am J Pediatr Hematol Oncol"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"A rapid banding technique for human chromosomes","volume":"ii:","author":"Seabright, M.","year":"1971","unstructured":"Seabright M. A rapid banding technique for human chromosomes. Lancet 1971;ii:971-2.","journal-title":"Lancet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/bjc.1974.108","article-title":"In vitro colonyforming cells and colony stimulating factor in chronic granulocytic leukaemia","volume":"30","author":"Goldman, J.M.; Th'ng, K.H.; Lowenthal, R.M.","year":"1974","unstructured":"Goldman JM, Th'ng KH, Lowenthal RM. In vitro colonyforming cells and colony stimulating factor in chronic granulocytic leukaemia. Br J Cancer 1974;30:1-12.","journal-title":"Br J Cancer"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1182\/blood.V64.1.78.78","article-title":"Identification of pure and mixed basophil colonies in culture of human peripheral blood and marrow cells","volume":"64","author":"Leary, A.G.; Ogawa, M.","year":"1984","unstructured":"Leary AG, Ogawa M. Identification of pure and mixed basophil colonies in culture of human peripheral blood and marrow cells. Blood 1984;64:78-83.","journal-title":"Blood"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/0165-4608(83)90088-2","article-title":"Novel reciprocal.ranslocation between chromosomes","volume":"9","author":"Friedhoff, F.; Rajendra, B.; Moody, R.; Alapatt, T.","year":"1983","unstructured":"Friedhoff F, Rajendra B, Moody R, Alapatt T. Novel reciprocal.ranslocation between chromosomes 8 and 9 found in a patient with myeloproliferative disorder. Cancer Genet Cytogenet 1983;9: 391-4.","journal-title":"Cancer Genet Cytogenet; a patient with myeloproliferative disorder"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/S0022-3476(76)80017-0","article-title":"A 9\/11 translocation in a child with Ph' negative chronic myelogenous leukemia","volume":"88","author":"Warburton, D.; Shah, N.","year":"1976","unstructured":"Warburton D, Shah N. A 9\/11 translocation in a child with Ph' negative chronic myelogenous leukemia. J Pediatr 1976;88: 599-601.","journal-title":"J Pediatr"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1056\/NEJM198007033030123","article-title":"Y chromosome structural rearrangement in Philadelphia chromosome negative chronic myelogenous leukemia","volume":"303","author":"Verhest, A.; Lustman, F.","year":"1980","unstructured":"Verhest A, Lustman F. Y chromosome structural rearrangement in Philadelphia chromosome negative chronic myelogenous leukemia. N Engl J Med 1980;303:53-4.","journal-title":"N Engl J Med"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2221","DOI":"10.1002\/1097-0142(19801115)46:10<2221::AID-CNCR2820461019>3.0.CO;2-8","article-title":"Chromosomes and causation of human cancer and leukemia. XL. The Ph' and other translocations in CML","volume":"46","author":"Sandberg, A.A.","year":"1980","unstructured":"Sandberg AA. Chromosomes and causation of human cancer and leukemia. XL. The Ph' and other translocations in CML. Cancer 1980;46:2221-6.","journal-title":"Cancer"},{"key":"ref_16","first-page":"593","article-title":"Altered transcription of an oncogene in chronic myeloid leukaemia","volume":"i:","author":"Canaani, E.; Steiner Saltz, D.; Aghai, E.; Gale, R.P.; Berrebi, A.; Januszewicz, E.","year":"1984","unstructured":"Canaani E, Steiner Saltz D, Aghai E, Gale RP, Berrebi A, Januszewicz E. Altered transcription of an oncogene in chronic myeloid leukaemia. Lancet 1984;i:593-5.","journal-title":"Lancet"},{"article-title":"SUMMARY We describe the clinical and cytogenetic findings of a 91\/2 month old girl with a complex chromosome rearrangement Received for publication 3","year":"1984","key":"ref_17","unstructured":"SUMMARY We describe the clinical and cytogenetic findings of a 91\/2 month old girl with a complex chromosome rearrangement Received for publication 3 August 1984. Accepted for publication 10 January 1985."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/ajmg.1320040209","article-title":"Deletion mapping: further evidence for the location of acid phosphatase (ACPI) within 2p23","volume":"4","author":"Emanuel, B.S.; Zackai, E.H.; Van Dyke, D.C.; Swallow, D.M.; Allen, F.H.; Mellman, W.J.","year":"1979","unstructured":"Emanuel BS, Zackai EH, Van Dyke DC, Swallow DM, Allen FH, Mellman WJ. Deletion mapping: further evidence for the location of acid phosphatase (ACPI) within 2p23. Am J Med Genet 1979;4:167-72.","journal-title":"Am J Med Genet"},{"key":"ref_19","first-page":"271","article-title":"Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2","volume":"243","author":"Ferguson-Smith, M.A.; Newman, B.F.; Ellis, P.M.; Thomson, D.M.G.","year":"1973","unstructured":"Ferguson-Smith MA, Newman BF, Ellis PM, Thomson DMG. Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2. Nature 1973;243:271-4.","journal-title":"Nature"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/BF00287165","article-title":"Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata","volume":"51","author":"Fryns, J.P.; DeWaele, P.; Van Den Berghe, H.","year":"1979","unstructured":"Fryns JP, DeWaele P, Van Den Berghe H. Interstitial deletion of the short arm of chromosome 2 in a moderately mentally retarded boy without gross clinical stigmata. Hum Genet 1979;51:123-5.","journal-title":"Hum Genet"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1007\/BF00282027","article-title":"Interstitial deletion (2)(pl3pl5)","volume":"57","author":"Duca, D.; loan D; Meila, P.; Ionescu-Cerna, M.; Simonescu, L.; Maximilian, C.","year":"1981","unstructured":"Duca D, loan D, Meila P, Ionescu-Cerna M, Simonescu L, Maximilian C. Interstitial deletion (2)(pl3pl5). Hum Genet 1981;57:214-6.","journal-title":"Hum Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1159\/000130755","article-title":"Deletion of the short arm of chromosome 2 from a subject with congenital anomalies","volume":"18","author":"Zachai, E.; Emanuel, B.; Mellman, W.J.","year":"1977","unstructured":"Zachai E, Emanuel B, Mellman WJ, et al. Deletion of the short arm of chromosome 2 from a subject with congenital anomalies. Cytogenet Cell Genet 1977;18:108.","journal-title":"Cytogenet Cell Genet"},{"article-title":"Accepted for for ppuubblliiccaattiioonn","year":"1984","key":"ref_23","unstructured":"Accepted for for ppuubblliiccaattiioonn December 1984. January 1985."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.22.5.401","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:47:37Z","timestamp":1760734057000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.22.5.401"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,10]]},"references-count":23,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1985,10,1]]},"published-print":{"date-parts":[[1985,10]]}},"alternative-id":["10.1136\/jmg.22.5.401"],"URL":"https:\/\/doi.org\/10.1136\/jmg.22.5.401","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1985,10]]}}}