{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:31:10Z","timestamp":1790713870882,"version":"4.1.0"},"reference-count":8,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,12]]},"abstract":"<jats:p>A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented. Despite trisomy for a substantial portion of chromosome 21, the patient showed only minor stigmata compatible with Down syndrome.<\/jats:p>","DOI":"10.1136\/jmg.14.6.459","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"459-462","source":"Crossref","is-referenced-by-count":21,"title":["Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3)."],"prefix":"10.1136","volume":"14","author":[{"given":"O","family":"Sanch\u00e9z","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Mamunes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J J","family":"Yunis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1977,12,1]]},"reference":[{"key":"ref_1","first-page":"223228","article-title":"Defects: Original Article Series, XI, No. 5. The National Foundation-March of Dimes","volume-title":"New Chromosomal and Malformation Syndromes","author":"Fawcett, W.A.; McCord, W.K.; Francke, U.","year":"1975","unstructured":"Fawcett, W. A., McCord, W. K., and Francke, U. (1975). In New Chromosomal and Malformation Syndromes, pp. 223228. Ed. by D. Bergsma. Birth Defects: Original Article Series, XI, No. 5. The National Foundation-March of Dimes, New York."},{"key":"ref_2","first-page":"198","article-title":"Clinical manifestations of chromosome disorders. In Human Chromosome Methodology","author":"Gorlin, R.J.","year":"1974","unstructured":"Gorlin, R. J. (1974). Clinical manifestations of chromosome disorders. In Human Chromosome Methodology, 2nd ed., pp. 198-270. Ed. by J. J. Yunis. Academic Press, New York.","edition":"2nd ed"},{"key":"ref_3","volume":"Vol.","author":"Hamerton, J.L.","year":"1971","unstructured":"Hamerton, J. L. (1971). Human Cytogenetics, Vol. I. Academic Press, New York.","journal-title":"Human Cytogenetics"},{"key":"ref_4","first-page":"130","article-title":"Trisomy for the distal half of the short arm of chromosome 9","volume":"ofChildren,","year":"1976","unstructured":"Lewandowski, R. C., Yunis, J. J., Lehrke, R., O'Leary, J., Swaiman, K. F., and Sanchez, 0. (1976). Trisomy for the distal half of the short arm of chromosome 9. American Journal ofDiseases ofChildren, 130,663-667.","journal-title":"American Journal ofDiseases"},{"key":"ref_5","first-page":"1","article-title":"Standardization in Human Cytogenetics","volume-title":"7. The National Foundation-March of Dimes; Defects: Original Article Series VIII, No","author":"Birth, D.Bergsma","year":"1971","unstructured":"Paris Conference (1971). Standardization in Human Cytogenetics, pp. 1-46. Ed. by D. Bergsma. Birth Defects: Original Article Series VIII, No. 7. The National Foundation-March of Dimes, New York."},{"key":"ref_6","first-page":"59","article-title":"Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes","volume":"12","author":"Sanchez, O.; Yunis, J.J.; Escobar, J.","year":"1974","unstructured":"Sanchez, O., Yunis, J. J., and Escobar, J. 1. (1974). Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12 and 13. Humangenetik, 22, 59-65."},{"key":"ref_7","first-page":"27","article-title":"Familial Down syndrome due to t(10; 21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21","author":"Williams, J.D.; Summit, R.L.; Martens, P.R.; Kimbrell, R.A.","year":"1975","unstructured":"Williams, J. D., Summit, R. L., Martens, P. R., and Kimbrell, R. A. (1975). Familial Down 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_8","first-page":"27","article-title":"The G-banded prophase chromosomes ofman","author":"Yunis, J. J.; Sanchez, 0","year":"1975","unstructured":"Yunis, J. J., and Sanchez, 0. (1975). The G-banded prophase chromosomes ofman. Humangenetik, 27,167-172.","journal-title":"Humangenetik"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.14.6.459","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:38:11Z","timestamp":1759689491000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.14.6.459"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,12]]},"references-count":8,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1977,12,1]]},"published-print":{"date-parts":[[1977,12]]}},"alternative-id":["10.1136\/jmg.14.6.459"],"URL":"https:\/\/doi.org\/10.1136\/jmg.14.6.459","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1977,12]]}}}