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Aspermia, associated with a presumably balanced X/autosomal translocation

Karyotype 46,Y,t(X;5)(q28;q11)

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Summary

A new case of X/autosome translocation in a male patient is described. Azoospermia and Klinefelter like stigmata can be explained as a consequence of the balanced translocation, or by disturbed X-chromosomal inactivation during spermiogenesis.

Zusammenfassung

Es wird über einen neuen Fall einer X/Autosom-Translokation beim Mann berichtet. Azoospermie und Klinefelter-ähnliche Stigmata können unmittelbar auf die balancierte Translokation zurückgeführt werden oder Folge einer durch die Translokation gestörten X-chromosomalen Inaktivierung während der Spermiogenese sein.

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Authors and Affiliations

  1. Max-Planck-Institut für Psychiatrie, München

    S. Stengel-Rutkowski

  2. Fachrichtung Humangenetik der Universität des Saarlandes, Homburg/Saar

    H. Zankl, J. P. Chaudhuri & K. D. Zang

  3. Institut für Anthropologie und Humangenetik der Universität, München

    A. Rodewald

  4. Kinderklinik der Technischen Universität, München

    S. Scharrer

Authors
  1. S. Stengel-Rutkowski
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  2. H. Zankl
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  3. A. Rodewald
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  4. S. Scharrer
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  5. J. P. Chaudhuri
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  6. K. D. Zang
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Stengel-Rutkowski, S., Zankl, H., Rodewald, A. et al. Aspermia, associated with a presumably balanced X/autosomal translocation. Hum. Genet. 31, 97–106 (1976). https://doi.org/10.1007/BF00270405

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  • DOI: https://doi.org/10.1007/BF00270405

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