The 11q;22q translocation: A European collaborative analysis of 43 cases

Autor: Fraccaro, M., Lindsten, J., Ford, C. E., Iselius, L., Antonelli, A., Aula, P., Aurias, A., Bain, A. D., Bartsch-Sandhoff, M., Bernardi, F., Boyd, E., Buchanan, L. F., Cameron, A. H., Chapelle, A., Ciuffa, G., Cuoco, C., Dutrillaux, B., Dutton, G., Ferguson-Smith, M. A., Francesconi, D., Geraedts, J. P. M., Gimelli, G., Gueguen, J., Gärsner, E., Hagemeijer, A., Hansen, F. J., Hollings, P. E., Hustinx, T. W. J., Kaakinen, A., Kamp, J. J. P., Koskull, H., Lejeune, J., Lindenbaum, R. H., McCreanor, H. H., Mikkelsen, M., Mitelman, F., Nicoletti, B., Nilsby, J., Nilsson, B., Noel, B., Padovani, E., Pasquali, F., Pater, J., Pedersen, C., Petersen, F., Robson, E. B., Rotman, J., Ryynänen, M., Sachs, E., Salat, J., Smythe, R. H., Stabell, I., Šubrt, I., Vampirelli, P., Wessner, G., Zergollern, L., Zuffardi, O.
Zdroj: Human Genetics; October 1980, Vol. 56 Issue: 1 p21-51, 31p
Abstrakt: Translocation between the long arms of chromosomes 11 and 22 is usually detected in offspring with an unbalanced karyotype following a 3:1 disjunction resulting in “partial trisomy.” Since by the end of 1976 it was suspected that this translocation might be more frequent than one would deduce from published reports, it was decided to call for a collaborative effort in Europe to collect unpublished cases. In response, 42 cases were collected in Europe, and one case from New Zealand was added. The following countries were represented with the number of cases indicated in parentheses: Czechoslovakia (2), Denmark (4), Finland (3), France (6), Germany (1), Italy (5), The Netherlands (9), Sweden (6), United Kingdom (4), Yugoslavia (2). The wide geographical distribution indicates a multifocal origin of the translocation. Among the unpublished cases, 31 were ascertained as unbalanced carriers [47,XX or XY,+der(22),t(11;22)] and 12 as balanced balanced carriers [46,XX and XY,t(11;22)]. Among the published cases, 10 were ascertained in unbalanced and 3 in balanced carriers. The breakpoints of the translocations indicated by the contributors varied, the most frequently reported being 11q23;22q11 (25 cases), followed by q25;q13 (10 cases). While the first one seems more likely, it was not possible to decide whether the breakpoints were the same in all cases.
Databáze: Supplemental Index
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