{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T09:54:36Z","timestamp":1777370076632,"version":"3.51.4"},"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>Four cases of Turner's syndrome are presented in which an apparent X isochromosome i(Xq) has been found to possess two regions of centromeric heterochromatin. It is suggested that these chromosomes were isodicentric structures capable of functioning as monocentric elements as a result of the inactivation of one centromere. The prevalence of mosaicism is believed to be a consequence of the dicentric nature of these chromosomes, and it is considered possible that a high proportion of X isochromosmes are structurally dicentric. Banding patterns showed that the exchange site involved in the formation of the dicentric chromosome was different in at least three of the cases.<\/jats:p>","DOI":"10.1136\/jmg.13.6.496","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"496-500","source":"Crossref","is-referenced-by-count":18,"title":["Dicentric X isochromosomes in man."],"prefix":"10.1136","volume":"13","author":[{"given":"R T","family":"Howell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S H","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R J","family":"Beard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1976,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1136\/jmg.10.1.74","article-title":"Human dicentric Y chromosomes","volume":"10","author":"A.","year":"1973","unstructured":"A. (1973). Human dicentric Y chromosomes. Journal ofMedical Genetics, 10, 74-79.","journal-title":"Journal ofMedical Genetics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/j.1399-0004.1975.tb01948.x","article-title":"Dicentric X isochromosome (Xqidic) and pericentric inversion of No. 2 (inv(2)(pl5q21)) in a patient with gonadal dysgenesis","volume":"8","author":"Cohen, M.M.; Rosenmann, A.; Hacham-Zadeh, S.; Dahan, S.","year":"1975","unstructured":"Cohen, M. M., Rosenmann, A., Hacham-Zadeh, S., and Dahan, S. (1975). Dicentric X isochromosome (Xqidic) and pericentric inversion of No. 2 (inv(2)(pl5q21)) in a patient with gonadal dysgenesis. Clinical Genetics, 8, 11-17.","journal-title":"Clinical Genetics"},{"issue":"197-213","key":"ref_3","article-title":"A dicentric cycle in Narcissus","volume":"6","author":"Darlington, C.D.; Wylie, A.P.","year":"1953","unstructured":"Darlington, C. D. and Wylie, A. P. (1953). A dicentric cycle in Narcissus. Heredity, 6, Suppl. Vol., 197-213. de la Chapelle, A.","journal-title":"Heredity"},{"key":"ref_4","first-page":"\"259","article-title":"Dicentric human X chromosomes","volume":"76","author":"Darlington, C.D.; Wylie, A.P.; Stenstrand, K.","year":"1974","unstructured":"Darlington, C. D. and Wylie, A. P. and Stenstrand, K. (1974). Dicentric human X chromosomes. Hereditas, 76, 259-268. de la Chapelle, A., Wennstrom, J., Hortling, H., and Ockey, C. H. (1966). Isochromosome X in man, Part I. Hereditas, 54, 260276. Dist&he, C., Hagemeijer, A., Frederic, J., and Progneaux, D. (1972). An abnormal large human chromosome identified as an end-to-end fusion of two X's by combined results of the new banding techniques and microdensitometry. Clinical Genetics, 3, 388-395.","journal-title":"Hereditas; An abnormal large human chromosome identified as an end-to-end fusion of two X's by combined results of the new banding techniques and microdensitometry"},{"key":"ref_5","first-page":"86","volume":"2","author":"Hamerton, J.L.","year":"1971","unstructured":"Hamerton, J. L. (1971). Human Cytogenetics, Vol. 2, pp. 86-88. Academic Press, London.","journal-title":"Human Cytogenetics"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1159\/000130186","article-title":"A 45, XX,5-13-dic + karyotype in a case of cri-du-chat syndrome","volume":"11","author":"Niebuhr, E.","year":"1972","unstructured":"Niebuhr, E. (1972a). A 45,XX,5-13-dic + karyotype in a case of cri-du-chat syndrome. Cytogenetics, 11, 165-177.","journal-title":"Cytogenetics"},{"key":"ref_7","first-page":"16","article-title":"Dicentric and monocentric Robertsonian translocations in man","author":"Niebuhr, E.","year":"1972","unstructured":"Niebuhr, E. (1972b). Dicentric and monocentric Robertsonian translocations in man. Human Genetics, 16,217-226.","journal-title":"Human Genetics"},{"issue":"7","key":"ref_8","article-title":"Standardization in human cytogenetics. Birth Defects: Original Article","volume":"8","author":"Paris Conference","year":"1971","unstructured":"Paris Conference (1971). Standardization in human cytogenetics. Birth Defects: Original Article Series, 8, No. 7, 1972. The National Foundation-March of Dimes, New York.","journal-title":"Series; The National Foundation-March of Dimes"},{"key":"ref_9","article-title":"A stable dicentric autosome, tdic( 8: 22)(p23: pI3), in a mentally retarded girl","author":"Roberts, S.H.; Howell, R.T.; Laurence, K.M.; Heathcote, M.E.","year":"1977","unstructured":"Roberts, S. H., Howell, R. T., Laurence, K. M., and Heathcote, M. E. (1977). A stable dicentric autosome, tdic(8:22)(p23:pI3), in a mentally retarded girl. Journal of Medical Genetics (in press).","journal-title":"Journal of Medical Genetics"},{"key":"ref_10","first-page":"2","article-title":"A rapid banding technique for human chromosomes","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_11","first-page":"136","article-title":"Dicentric chromosome due to an unusual fusion","volume":"12","year":"1971","unstructured":"Subrt, I., Blehova, B., and Taborsky, 0. (1971). Dicentric chromosome due to an unusual fusion. Humangenetik, 12, 136-141.","journal-title":"Humangenetik"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/newbio232031a0","article-title":"New technique for distinguishing between human chromosomes","volume":"232","author":"Sumner, A.T.; Evans, H.J.; Buckland, R.A.","year":"1971","unstructured":"Sumner, A. T., Evans, H. J., and Buckland, R. A. (1971). New technique for distinguishing between human chromosomes. Nature New Biology, 232, 31-32.","journal-title":"Nature New Biology"},{"key":"ref_13","first-page":"83","article-title":"Apparently isodicentric but functionally monocentric X chromosome in man","volume":"26","author":"Therman, E.; Sarto, G.E.; Patau, K.","year":"1974","unstructured":"Therman, E., Sarto, G. E., and Patau, K. (1974). Apparently isodicentric but functionally monocentric X chromosome in man. American Journal of Human Genetics, 26, 83-92.","journal-title":"American Journal of Human Genetics"},{"key":"ref_14","first-page":"439","article-title":"A stable human dicentric chromosome, tdic( 12: 14) (p13:pl3) including an intercalary satellite region between centromeres","volume":"25","author":"Warburton, D.; Henderson, A.S.; Shapiro, L.R.; Hsu, L.Y.F.","year":"1973","unstructured":"Warburton, D., Henderson, A. S., Shapiro, L. R., and Hsu, L. Y. F. (1973). A stable human dicentric chromosome, tdic(12:14) (p13:pl3) including an intercalary satellite region between centromeres. American Journal of Human Genetics, 25, 439-445.","journal-title":"American Journal of Human Genetics"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1399-0004.1975.tb00332.x","article-title":"Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq)","volume":"7","author":"Yanagisawa, S.; Yokoyama, H.","year":"1975","unstructured":"Yanagisawa, S. and Yokoyama, H. (1975). Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq). Clinical Genetics, 7, 299-303.","journal-title":"Clinical Genetics"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.13.6.496","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:41:44Z","timestamp":1760773304000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.13.6.496"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1976,12]]},"references-count":15,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1976,12,1]]},"published-print":{"date-parts":[[1976,12]]}},"alternative-id":["10.1136\/jmg.13.6.496"],"URL":"https:\/\/doi.org\/10.1136\/jmg.13.6.496","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1976,12]]}}}