{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T21:42:16Z","timestamp":1766266936958,"version":"build-2065373602"},"reference-count":34,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1976,10]]},"abstract":"<jats:p>Banding studies in 25 Robertsonian translocations showed that all could be interpreted as stable dicentrics. The mechanism for their stability is likely to be the proximity of their centromeres but centromeric suppression could also have a role. In many of these dicentric translocations, discontinuous centromeric suppression, as indicated by chromatid separation at one of the centromeric regions, was observed in C-banded preparations. A further observation of undefined relation to the first was that the ratio of the two constitutive centromeric heterochromatin (CCH) regions from the component chromosomes of the translocations was variable in the same translocation type, e.g. t(13;14). It is proposed that this ratio may influence the segregation ratio. Abnormal spermatogenesis is suggested as the likely mechanism for the difference in the proportion of aneuploid offspring in the progeny of maternal and paternal heterozygotes. Neither of the t dic(21;21)s could be interpreted as isochromosomes. It is proposed that Robertsonian fusion translocations be defined as stable, dicentric, whole-arm translocations, with both centromeres in a median position and resulting in the loss of a small acentric fragment during this formation. It is suggested that they occur at high frequency between telocentric or, as in man, certain acrocentric chromosomes because of some intrinsic property of those chromosomes not possessed by metacentric chromosomes and mediated by interphase association of centromeres.<\/jats:p>","DOI":"10.1136\/jmg.13.5.381","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"381-388","source":"Crossref","is-referenced-by-count":41,"title":["Structure and inheritance of some heterozygous Robertsonian translocation in man."],"prefix":"10.1136","volume":"13","author":[{"given":"A","family":"Daniel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P R","family":"Lam-Po-Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1976,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1111\/j.1469-1809.1970.tb00218.x","article-title":"Three dicentric Y chromosomes","volume":"34","author":"Angell, R.; Gianelli, F.; Polani, P.E.","year":"1970","unstructured":"Angell, R., Gianelli, F., and Polani, P. 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Humangenetik, 16, 217-226.","journal-title":"Humangenetik"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1016\/0014-4827(63)90196-4","article-title":"Significance in mammalian oogenesis of the non-homologous association of bivalents","volume":"32","author":"Ohno, S.; Christian, L.C.; Stenius, C.","year":"1963","unstructured":"Ohno, S., Christian, L. C., and Stenius, C. (1963). Significance in mammalian oogenesis of the non-homologous association of bivalents. Experimental Cell Research, 32, 590-621.","journal-title":"Experimental Cell Research"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/S0065-2660(08)60174-1","article-title":"Meiotic drive in drosophilia new interpretations of the segregation distorter and sex chromosome systems","volume":"17","author":"Peacock, W.J.; Miklos, G.L.G.","year":"1973","unstructured":"Peacock, W. J., and Miklos, G. L. G. (1973). Meiotic drive in drosophilia new interpretations of the segregation distorter and sex chromosome systems. Advanced Genetics, 17, 361-409.","journal-title":"Advanced Genetics"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1002\/jmor.1050270202","article-title":"Chromosome studies I. Taxonomic relationships shown in the chromosome of Tettigidae and Acrididae. V-shaped chromosomes and their significance in Acrididae, Locustidae and Gryllidae: chromosome and variation. J7ournal of","volume":"27","author":"Robertson, W.R.B.","year":"1916","unstructured":"Robertson, W. R. B. (1916). Chromosome studies I. Taxonomic relationships shown in the chromosome of Tettigidae and Acrididae. V-shaped chromosomes and their significance in Acrididae, Locustidae and Gryllidae: chromosome and variation. J7ournal of Morphology, 27, 179-331.","journal-title":"Morphology"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1093\/genetics\/37.2.125","article-title":"A transmissible dicentric chromosome","volume":"37","author":"Sears, E.R.; Camara, A.","year":"1952","unstructured":"Sears, E. R., and Camara, A. (1952). A transmissible dicentric chromosome. Genetics, 37, 125.","journal-title":"Genetics"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/BF00290788","article-title":"Metaphase distribution of the mouse chromosomes","volume":"39","author":"Spence-Campbell, M.A.; Forsythe, A.B.; Nesbitt, M.","year":"1972","unstructured":"Spence-Campbell, M. A., Forsythe, A. B., and Nesbitt, M. (1972). Metaphase distribution of the mouse chromosomes. Chromosoma, 39, 289-295.","journal-title":"Chromosoma"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1111\/j.1469-1809.1970.tb01651.x","article-title":"Analysis of segregation patterns between sibships within families ascertained in different ways","volume":"33","author":"Stene, J.","year":"1970","unstructured":"Stene, J. (1970a). Analysis of segregation patterns between sibships within families ascertained in different ways. Annals of Human Genetics, 33, 261-283.","journal-title":"Annals of Human Genetics"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1111\/j.1469-1809.1970.tb01666.x","article-title":"Comparison of segregation ratios for families ascertained in different ways","volume":"33","author":"Stene, J.","year":"1970","unstructured":"Stene, J. (1970b). Comparison of segregation ratios for families ascertained in different ways. Annals of Human Genetics, 33, 395-412.","journal-title":"Annals of Human Genetics"},{"key":"ref_33","first-page":"34","article-title":"Statistical inference on segregation ratios for D\/G-translocations, when the families are ascertained in different ways","author":"Stene, J.","year":"1970","unstructured":"Stene, J. (1970c). Statistical inference on segregation ratios for D\/G-translocations, when the families are ascertained in different ways. Annals of Human Genetics, 34,93-115.","journal-title":"Annals of Human Genetics"},{"key":"ref_34","article-title":"The Chromosomes","author":"White, W.J.B.","year":"1961","unstructured":"White, W. J. B. (1961). The Chromosomes, 5th ed. 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