{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T16:30:53Z","timestamp":1773678653990,"version":"3.50.1"},"reference-count":15,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1976,12]]},"abstract":"<jats:p>Trisomy-22 was confirmed with both Q- and G-banding in two sibs. Growth and mental retardation plus various dysmorphic features of this syndrome are described and compared with previous reports. Cytogenetic studies reveal a morphologically atypical No. 22 in cells of the phenotypically normal mother (46,XX) and in both affected children. The variant G chromosome is identified as No. 22 by Q- and G-banding and is interpreted as a product of a pericentric inversion on the basis of general length, arm ratio (1.4), and anomalous satellite association frequency. Repeated nondisjunction for No. 22 is considered to have resulted from asynapsis caused by interference of an inversion loop configuration which, though short, comprised a major part of chromosome 22.<\/jats:p>","DOI":"10.1136\/jmg.13.6.501","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"501-506","source":"Crossref","is-referenced-by-count":21,"title":["Abnormal chromosome 22 and recurrence of trisomy-22 syndrome."],"prefix":"10.1136","volume":"13","author":[{"given":"B S","family":"Emanuel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E H","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M M","family":"Aronson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W J","family":"Mellman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P S","family":"Moorhead","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1976,12,1]]},"reference":[{"issue":"3","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 Genitique, 16, No. 3, 189-192.","journal-title":"Annales de Genitique"},{"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","first-page":"107","article-title":"Enlarged satellites as a familial chromosome marker","volume":"14","author":"Cooper, H.L.; Hirschhorn, K.","year":"1962","unstructured":"Cooper, H. L. and Hirschhorn, K. (1962). Enlarged satellites as a familial chromosome marker. 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HumanCytogenetics, Vol.I. General Cytegenetics, pp. 198-200. Academic Press, New York. Hamerton, J. L. (1971b). Human Cytogenetics, Vol. 1. General Cytogenetics, p. 129. Academic Press, New York. Hsu, L., Shapiro, L. R., Gertner, M., Lieber, E., and Hirschorn, K. (1971). Trisomy 22: a clinical entity. Journal of Pediatrics, 79, 12-19.","journal-title":"Clinical Genetics; Human Cytogenetics, Vol. 1. General Cytogenetics"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/0014-4827(60)90138-5","article-title":"Chromosome preparations of leukocytes cultured from human peripheral blood","volume":"20","author":"Moorhead, P.S.; Nowell, P.C.; Mellman, W.J.; Battips, D.M.; Hungerford, D.A.","year":"1960","unstructured":"Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., and Hungerford, D. A. (1960). Chromosome preparations of leukocytes cultured from human peripheral blood. 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Theoretical and Applied Genetics, 43, 134-138.","journal-title":"Theoretical and Applied Genetics"},{"key":"ref_11","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":"2","author":"Seabright, M.","year":"1971","unstructured":"Seabright, M. (1971). A rapid banding technique for human chromosomes. Lancet, 2, 971-972.","journal-title":"Lancet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1159\/000129832","article-title":"Enlarged short arm of a small acrocentric chromosome in grandfather, mother and child, the latter with Down's syndrome","volume":"3","author":"Therkelson, A.J.","year":"1964","unstructured":"Therkelson, A. J. (1964). Enlarged short arm of a small acrocentric chromosome in grandfather, mother and child, the latter with Down's syndrome. 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