{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:31:11Z","timestamp":1790713871595,"version":"4.1.0"},"reference-count":9,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1979,6]]},"abstract":"<jats:p>A prenatally diagnosed male fetus and his mother, who was referred because of her advanced age, both carried an abnormal bisatellited chromosome 21 as an extra chromosome. The abnormal 21 was monocentric and the G negative band q22 and part of q21 had been deleted during formation. The phenotype of both the mother and child (at birth) was normal.<\/jats:p>","DOI":"10.1136\/jmg.16.3.227","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"227-229","source":"Crossref","is-referenced-by-count":23,"title":["Normal phenotype and partial trisomy for the G positive region of chromosome 21."],"prefix":"10.1136","volume":"16","author":[{"given":"A","family":"Daniel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1979,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1111\/j.1399-0004.1973.tb01149.x","article-title":"Partial trisomy 21","volume":"4","author":"Aula, P.; Leisti, J.; Von Koskull, H.","year":"1973","unstructured":"Aula, P., Leisti, J., and Von Koskull, H. (1973). Partial trisomy 21. 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Humangenetik, 21, 99-101.","journal-title":"Humangenetik"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1016\/S0140-6736(66)92621-3","article-title":"Development of translocation 21\/22","volume":"2","author":"Soudek, D.; Laxova, R.; Adamek, R.","year":"1966","unstructured":"Soudek, D., Laxova, R., and Adamek, R. (1966). Development of translocation 21\/22. Lancet, 2, 336-337.","journal-title":"Lancet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1016\/S0022-3476(63)80103-1","article-title":"A chromosomal abnormality in a girl with some features of Down's syndrome (mongolism)","volume":"62","author":"Warkany, J.; Soukup, S.W.","year":"1963","unstructured":"Warkany, J., and Soukup, S. W. (1963). A chromosomal abnormality in a girl with some features of Down's syndrome (mongolism). Journal of Pediatrics, 62, 890-894.","journal-title":"Journal of Pediatrics"},{"key":"ref_8","first-page":"478","article-title":"Familial Down's syndrome due to t(10; 21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21","volume":"27","author":"Williams, J.D.; Summitt, R.L.; Martens, P.R.; Kimbrell, R.A.","year":"1975","unstructured":"Williams, J. D., Summitt, R. L., Martens, P. R., and Kimbrell, R. A. (1975). Familial Down's syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21. American Journal ofHuman Genetics, 27, 478-485.","journal-title":"American Journal ofHuman Genetics"},{"key":"ref_9","article-title":"Few cases of trisomy 20p are to be found in published reports","year":"1977","unstructured":"Few cases of trisomy 20p are to be found in published reports. Recently, Centerwall and Francke (1977)","journal-title":"Recently, Centerwall and Francke"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.16.3.227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:40:32Z","timestamp":1760769632000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.16.3.227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,6]]},"references-count":9,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1979,6,1]]},"published-print":{"date-parts":[[1979,6]]}},"alternative-id":["10.1136\/jmg.16.3.227"],"URL":"https:\/\/doi.org\/10.1136\/jmg.16.3.227","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1979,6]]}}}