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Inherited translocations in two families (t(14q+;10q−) and t(13q−;21q+))

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Summary

Two families with reciprocal translocations (t(14q+;10q−) and t(13q−;21q+)) are described. In both families the proband had multiple congenital anomalies and an unbalanced karyotype, 46,XY,14q+ and 46,XX,21q+ respectively. Routine, autoradiographic and fluorescence techniques were used for analysis of karyotype of probands and their relatives. The probands' phenotypes and the results of their family members' dermatoglyphic analysis are presented in detail.

Zusammenfassung

Zwei Familien mit reziproker Translokation (t(14q+;10q−) und t(13q−;21q+)) werden beschrieben. In beiden Familien weist der Proband multiple angeborene Mißbildungen und einen unbalancierten Karyotyp (46,XY,14q+ bzw. 46,XX,21q+) auf. Für die Analyse aller untersuchten Personen wurden neben der Routine-Methode autoradiographische und Fluorescenz-Methoden verwendet. Die Phänotypen der Probanden sowie die Ergebnisse einer Analyse der Dermatoglyphen bei ihren Familienangehörigen werden genau beschrieben.

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References

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Authors and Affiliations

  1. Laboratory of Medical Genetics, Tartu Republican Clinical Hospital, Tartu, Estonia, USSR

    T. Talvik, A.-V. Mikelsaar, Ruth Mikelsaar, M. Käosaar & S. Tüür

  2. Central Medical Research Laboratory, Tartu State University, Tartu, Estonia, USSR

    T. Talvik, A.-V. Mikelsaar, Ruth Mikelsaar, M. Käosaar & S. Tüür

  3. Tartu Republican Clinical Psychoneurological Hospital, Tartu, Estonia, USSR

    T. Talvik, A.-V. Mikelsaar, Ruth Mikelsaar, M. Käosaar & S. Tüür

Authors
  1. T. Talvik
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  2. A.-V. Mikelsaar
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  3. Ruth Mikelsaar
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  4. M. Käosaar
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  5. S. Tüür
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Talvik, T., Mikelsaar, AV., Mikelsaar, R. et al. Inherited translocations in two families (t(14q+;10q−) and t(13q−;21q+)). Hum Genet 19, 215–226 (1973). https://doi.org/10.1007/BF00278394

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  • DOI: https://doi.org/10.1007/BF00278394

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