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The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families

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Summary

Following a previous collaborative study (Fraccaro et al. 1980), 20 new cases of 11q;22q translocation are described. Twelve families were ascertained through an unbalanced carrier of the translocation and eight cases were ascertained as balanced carriers. A segregation analysis was performed on the 110 families so far published. It was concluded that the 11q;22q translocation is a relatively frequent event, and that all the cases thus far reported might have the same breakpoints at 11q23.3 and 22q11.2. The translocation seems to be independent of environmental factors and it seems to have a low rate of mutation as indicated by the scarcity of de novo cases. The new data confirmed that only one type of unbalanced karyotype (47,XX or XY+der(22)t(11;22)(q23.3;q11.2)) is found among the offspring of the translocation carriers. The minimal overall recurrence risk for an unbalanced translocation was estimated to 2%. There was no difference between the recurrence risks for male and female balanced carriers, while the trend was confirmed of an excess of female balanced carriers among the phenotypically normal offspring of the t(11;22) female carriers.

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Authors and Affiliations

  1. Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden

    L. Iselius, J. Lindsten, T. -H. Bui & J. Gyftodimou

  2. Institut de Progénèse, 15, Rue de l'Ecole de Médicine, Paris, France

    A. Aurias & B. Dutrillaux

  3. Istituto di Biologia Generale e Genetica Medica, C.P. 217, I-27100, Pavia, Italy

    M. Fraccaro, F. Pasquali, S. Scappaticci & O. Zuffardi

  4. Centre Régional de Transfusion Sanguine et de Génétique Humaine, Bois-Guillaume, France

    C. Bastard

  5. Ospedale di Circolo, Varese, Italy

    A. M. Bottelli

  6. Ospedale Civile, Pordenone, Italy

    D. Caufin & N. Delendi

  7. Clinica Ostetrica Mangiagalli, Università di Milano, Milano, Italy

    L. Dalprà & G. Simoni

  8. Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan

    Y. Fukushima & N. Niikawa

  9. Department of Human Genetics, University of Leiden, Leiden, The Netherlands

    J. P. M. Geraedts & H. Veenema

  10. Laboratoire de Cytogénétique, Hôpital Necker, Enfants Malades, Paris, France

    J. De Grouchy

  11. Atlantic Research Centre for Mental Retardation, Dalhousie University, Halifax, Nova Scotia, Canada

    A. L. Hanley, J. P. Welch & E. J. T. Winsor

  12. IWK Hospital for Children, Halifax, Nova Scotia, Canada

    A. L. Hanley, J. P. Welch & E. J. T. Winsor

  13. Institut für Humangenetik, Universität Göttingen, Göttingen, Germany

    I. Hansmann & H. D. Probeck

  14. Department of Pediatrics, Kushiro Red Cross Hospital, Kushiro, Japan

    T. Ishii

  15. Laboratoire de Cytogénétique, Centre Hospitalier Regional, Grenoble, France

    P. Jalbert

  16. Universitaire de Grenoble, Grenoble, France

    P. Jalbert

  17. Albred I. du Pont Institute, Wilmington, Delaware, USA

    S. Jingeleski

  18. Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan

    T. Kajii

  19. Laboratory of Prenatal Genetics, Helsinki University Central Hospital, Helsinki, Finland

    H. von Koskull

  20. Laboratoire d'Analyses Médicales, Centre Hospitalier, Chambery, France

    B. Noel

  21. University of Colorado School of Medicine, Denver, Colorado, USA

    A. Robinson

  22. Istituto di Puericultura e Medicina Neonatale, Università di Ferrara, Ferrara, Italy

    E. Roncarati, V. Vigi & S. Volpato

  23. Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands

    E. Sachs

  24. Institut für Humangenetik, Medizinische Hochschule Lübeck, Lübeck, Germany

    E. Schwinger

  25. Institut für Humangenetik, Freie Universität Berlin, Berlin, Germany

    R. -D. Wegner

  26. Department of Medical Cell Genetics, Karolinska Institute, Stockholm, Sweden

    S. Zhang

  27. Department of Medical Genetics, Sichuan Medical College, Sichuan, People's Republic of China

    S. Zhang

Authors
  1. L. Iselius
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  2. J. Lindsten
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  3. A. Aurias
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  4. M. Fraccaro
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  5. C. Bastard
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  6. A. M. Bottelli
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  7. T. -H. Bui
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  8. D. Caufin
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  9. L. Dalprà
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  10. N. Delendi
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  11. B. Dutrillaux
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  12. Y. Fukushima
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  13. J. P. M. Geraedts
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  14. J. De Grouchy
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  15. J. Gyftodimou
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  16. A. L. Hanley
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  17. I. Hansmann
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  18. T. Ishii
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  19. P. Jalbert
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  20. S. Jingeleski
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  21. T. Kajii
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  22. H. von Koskull
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  23. N. Niikawa
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  24. B. Noel
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  25. F. Pasquali
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  26. H. D. Probeck
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  27. A. Robinson
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  28. E. Roncarati
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  29. E. Sachs
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  30. S. Scappaticci
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  31. E. Schwinger
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  32. G. Simoni
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  33. H. Veenema
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  34. V. Vigi
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  35. S. Volpato
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  36. R. -D. Wegner
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  37. J. P. Welch
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  38. E. J. T. Winsor
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  39. S. Zhang
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  40. O. Zuffardi
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Iselius, L., Lindsten, J., Aurias, A. et al. The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families. Hum Genet 64, 343–355 (1983). https://doi.org/10.1007/BF00292366

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  • DOI: https://doi.org/10.1007/BF00292366

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