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Translocation (13q21q)

Four generation family study with analysis of satellite associations, flourescent markers, and prenatal diagnosis

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Summary

A (13q21q) translocation was found in an infant with Down's syndrome. The 17-year-old mother and the grandmother carried the translocation 45,XX,t(13;21)(p12;q11). The great grandparents had normal karyotypes. Fluorescence marker studies suggested that the translocation originated in the great grandmother. The hypothesis was supported by satellite association studies which showed a significant excess of 13–21 and 13–15 associations in the great grandmother.

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References

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Authors and Affiliations

  1. John F. Kennedy Institute, Glostrup, Denmark

    Margareta Mikkelsen, A. Hansson, Petrea Jacobsen & N. Hobolth

  2. Institute of Genetics, University of Lund, Lund, Sweden

    Margareta Mikkelsen, A. Hansson, Petrea Jacobsen & N. Hobolth

  3. Cytogenetic Department, Brejning Institute for Research in Mental Retardation, Brejning, Børkop, Denmark

    Margareta Mikkelsen, A. Hansson, Petrea Jacobsen & N. Hobolth

  4. Pediatric Department, Kolding Hospital, Kolding, Denmark

    Margareta Mikkelsen, A. Hansson, Petrea Jacobsen & N. Hobolth

Authors
  1. Margareta Mikkelsen
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  2. A. Hansson
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  3. Petrea Jacobsen
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  4. N. Hobolth
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Mikkelsen, M., Hansson, A., Jacobsen, P. et al. Translocation (13q21q). Hum Genet 27, 303–307 (1975). https://doi.org/10.1007/BF00278422

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  • DOI: https://doi.org/10.1007/BF00278422

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