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X-Autosome translocations: Cytogenetic characteristics and their consequences

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Summary

To define the principal characteristics of X-autosome translocations, the authors present a study of 105 cases, five of which are personal observations. The autosomal pairs 15, 21, and 22 are affected by t(X-Aut) more often than would be expected. The distribution of breakpoints on the X chromosome does not differ significantly from the expected distribution. The analysis of different patterns of inactivation seems to confirm that the inactivation could occur at random, but would be followed by a cellular selection favoring the better genetic balance. An estimate of the incidence of t(X-Aut) is proposed, based upon the conclusions that only one chromosome is susceptible to translocation in meiosis in both males and females and that all affected men will be sterile, as will be 50% of women.

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  1. Centre de Génétique Médicale, Hôpital d'Enfants de la Timone, F-13385, Marseille Cedex 5, France

    M. G. Mattei, J. F. Mattei, S. Ayme & F. Giraud

  2. U. 242 INSERM, Hôpital d'Enfants de la Timone, F-13385, Marseille Cedex 5, France

    M. G. Mattei, J. F. Mattei, S. Ayme & F. Giraud

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Mattei, M.G., Mattei, J.F., Ayme, S. et al. X-Autosome translocations: Cytogenetic characteristics and their consequences. Hum Genet 61, 295–309 (1982). https://doi.org/10.1007/BF00276593

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