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A balanced 13/18 translocation [46,XY,t(13q-; 18q+)] in the father of an infant with multiple anomalies

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Summary

A 28-year-old man, whose infant son died of multiple malformations, was shown to have a balanced 13q-/18q+ translocation. He was phenotypically and mentally normal. Studies of the pedigree revealed the presence of bilateral microtia on the side of the spouse of the proband, transmitted in a dominant mode through four generations. Occasional cells from the proband and his mother exhibited an elongated long arm of a chromosome 16.

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References

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Authors and Affiliations

  1. Institute of Medical Genetics, University of Geneva, Geneva, Switzerland

    E. McGilvray, T. Kajii, M. Freund, F. Bamatter & D. Klein

  2. Laboratory of Embryology and Cytogenetics of the Clinic of Gynecology and Obstetrics, University of Geneva, Geneva, Switzerland

    E. McGilvray, T. Kajii, M. Freund, F. Bamatter & D. Klein

Authors
  1. E. McGilvray
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  2. T. Kajii
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  3. M. Freund
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  4. F. Bamatter
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  5. D. Klein
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Additional information

This work was supported by a grant from the National Swiss Foundation for Scientific Research (Credit No. 3.211.69).

Supported by Grant 64-411A from the Ford Foundation Population Program.

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McGilvray, E., Kajii, T., Freund, M. et al. A balanced 13/18 translocation [46,XY,t(13q-; 18q+)] in the father of an infant with multiple anomalies. Hum Genet 12, 316–322 (1971). https://doi.org/10.1007/BF00278051

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  • DOI: https://doi.org/10.1007/BF00278051

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