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The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte

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Summary

Carriers of the standard translocation t(11;22) (q23.3;q11.2) produce only one type of unbalanced offspring, a tertiary trisomy resulting into the karyotype 47,XX or XY, +der(22)t(11;22)(q23.3;q11.2), usually derived from the mother. The exception is one single patient 47,XY,t(11;22)(q23.3;q11.2),+der(22)t(11;22) (q23.3;q11.2)pat. We report a second case with the same karyotype, also of paternal origin. Thus, the rare unbalanced offspring of a carrier father (only 5 cases known) may receive a supernumerary der(22), as a consequence of tertiary trisomy, but also as a consequence of nondisjunction at meiosis II of a balanced spermatocyte.

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Authors and Affiliations

  1. Laboratorio di Citogenetica, Clinica Pediatrica, Universitá di Pisa, Pisa, Italy

    P. Simi, M. Ceccarelli & A. Barachini

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

    G. Floridia & O. Zuffardi

Authors
  1. P. Simi
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  2. M. Ceccarelli
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  3. A. Barachini
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  4. G. Floridia
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  5. O. Zuffardi
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Simi, P., Ceccarelli, M., Barachini, A. et al. The unbalanced offspring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte. Hum Genet 88, 482–483 (1992). https://doi.org/10.1007/BF00215688

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  • DOI: https://doi.org/10.1007/BF00215688

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