{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:36:17Z","timestamp":1791999377135,"version":"4.4.0"},"reference-count":12,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1975,6]]},"abstract":"<jats:p>Two unrelated children, not affected with Down's syndrome, with strikingly similar phenotypes and an extra G-like chromosome are presented. Quinacrine and trypsin-Giemsa banding identified the extra chromosome as No. 22. The phenotype of these patients and the review of 15 additional similar cases from the literature permit a definition of the cardinal features of trisomy 22; mental and growth retardation, microcephaly and craniofacial asymmetry, strabismus, beaked and prominent nose, long philtrum, cleft palate, micrognathia, large low set ears with preauricular tags and\/or pits, long slender fingers, congenital heart disease, inguinal hernia, and hip dislocation.<\/jats:p>","DOI":"10.1136\/jmg.12.2.193","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"193-199","source":"Crossref","is-referenced-by-count":27,"title":["Trisomy 22. Two new cases and delineation of the phenotype."],"prefix":"10.1136","volume":"12","author":[{"given":"V B","family":"Penchaszadeh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Coco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1975,6,1]]},"reference":[{"key":"ref_1","first-page":"189","article-title":"Probable trisomy 22 identified by fluorescent and trypsin-Giemsa banding","volume":"16","author":"Bass, H.N.; Crandall, B.F.; Sparkes, R.S.","year":"1973","unstructured":"Bass, H. N., Crandall, B. F., and Sparkes, R. S. (1973). Probable trisomy 22 identified by fluorescent and trypsin-Giemsa banding. Annales de Genetique, 16, 189-192.","journal-title":"Annales de Genetique"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/0014-4827(70)90523-9","article-title":"Differential binding of alkylating fluorochromes in human chromosomes","volume":"60","author":"Caspersson, T.; Zech, L.; Johansson, C.","year":"1970","unstructured":"Caspersson, T., Zech, L., and Johansson, C. (1970). Differential binding of alkylating fluorochromes in human chromosomes. Experimental Cell Research, 60, 315-319.","journal-title":"Experimental Cell Research"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/S0022-3476(71)80096-3","article-title":"The question of trisomy 22 syndrome","volume":"79","author":"Goodman, R.M.; Katznelson, M.B.-M.; Spero, R.; Shaki, R.; Padeli, B.; Sadan, N.","year":"1971","unstructured":"Goodman, R. M., Katznelson, M. B.-M., Spero, R., Shaki, R., Padeli, B., and Sadan, N. (1971). The question of trisomy 22 syndrome. 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Humangenetik, 6, 181188.","journal-title":"Humangenetik"},{"key":"ref_8","first-page":"106","article-title":"Additional small acrocentric chromosomes: two cases","volume":"13","year":"1969","unstructured":"Nielsen, J., Tsuboi, T., Friedrick, U., Mikkelsen, M., Lund, B., and Steinicke, 0. (1969). Additional small acrocentric chromosomes: two cases. Journal of Mental Deficiency Research, 13, 106-122.","journal-title":"Journal of Mental Deficiency Research"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1016\/S0140-6736(72)91541-3","article-title":"Human chromosome banding","volume":"1","author":"Seabright, M.","year":"1972","unstructured":"Seabright, M. (1972). Human chromosome banding. Lancet, 1, 967.","journal-title":"Lancet"},{"key":"ref_10","first-page":"107","article-title":"Familial occurrence of trisomy 22","volume":"20","author":"Uchida, A.I.; Ray, M.; McRae, K.N.; Besant, D.F.","year":"1968","unstructured":"Uchida, A. I., Ray, M., McRae, K. N., and Besant, D. F. (1968). Familial occurrence of trisomy 22. American Journal of Human Genetics, 20, 107-118.","journal-title":"American Journal of Human Genetics"},{"key":"ref_11","first-page":"89","article-title":"Familial trisomy 22","volume":"25","author":"Zackai, E.; Aronson, M.; Kohn, G.; Moorhead, P.; Mellmam, W.","year":"1973","unstructured":"Zackai, E., Aronson, M., Kohn, G., Moorhead, P., and Mellmam, W. (1973). Familial trisomy 22. (Abstract.) American Journal of Human Genetics, 25, 89-A.","journal-title":"(Abstract.) American Journal of Human Genetics"},{"key":"ref_12","first-page":"290300","article-title":"Two cases of multiple malformations with an autosomal chromosomal aberration-partial trisomy D ?","volume":"17","author":"Zellweger, H.; Mikamo, K.; Abbo, G.","year":"1962","unstructured":"Zellweger, H., Mikamo, K., and Abbo, G. (1962). Two cases of multiple malformations with an autosomal chromosomal aberration-partial trisomy D ? Helvetica Paediatrica Acta, 17, 290300.","journal-title":"Helvetica Paediatrica Acta"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.12.2.193","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:54:57Z","timestamp":1760774097000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.12.2.193"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,6]]},"references-count":12,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1975,6,1]]},"published-print":{"date-parts":[[1975,6]]}},"alternative-id":["10.1136\/jmg.12.2.193"],"URL":"https:\/\/doi.org\/10.1136\/jmg.12.2.193","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1975,6]]}}}