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Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+)

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Summary

A duplication deficiency (partial trisomy 14) following a balanced translocation (14q-, 21q+) was found in a severely retarded, probably deaf child. The main feature is congenital glaucoma.

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References

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Authors and Affiliations

  1. Abteilung für klinische Genetik und Cytogenetik im Institut für Humangenetik der Universität, Münster

    R. A. Pfeiffer

  2. Frauenklinik der Gesamthochschule, Essen

    K. Büttinghaus

  3. Kinderklinik der Gesamthochschule, Essen

    H. Struck

Authors
  1. R. A. Pfeiffer
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  2. K. Büttinghaus
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  3. H. Struck
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Pfeiffer, R.A., Büttinghaus, K. & Struck, H. Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+). Humangenetik 20, 187–189 (1973). https://doi.org/10.1007/BF00284860

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  • DOI: https://doi.org/10.1007/BF00284860

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