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Partial trisomy 4q and partial monosomy 18q as a consequence of a paternal balanced translocation t(4q−;18q+)

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Summary

In a 16-month-old girl with stigmata of the 18q- syndrome, the analysis of Giemsa banding patterns displayed a chromosome 18 with an enlarged terminal band region of the long arm. The proposita's father and brother also revealed an elongated chromosome 18 and, in addition, a shortened long arm of chromosome 4. These two individuals are carriers of a balanced translocation with the karyotype 46,XY,t(4q-;18q+). The proposita received the 18q+ chromosome from the father. She was partially monosomic for a terminal segment of 18q and partially trisomic for a terminal segment of 4q.

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Authors and Affiliations

  1. Institut für Genetik, Medizinische Hochschule Hannover, Hannoves, Germany

    Christa Fonatsch & Sibylle D. Flatz

  2. Kinderklinik Cecilienstift, Hannover

    Peter Hürter

Authors
  1. Christa Fonatsch
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  2. Sibylle D. Flatz
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  3. Peter Hürter
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Fonatsch, C., Flatz, S.D. & Hürter, P. Partial trisomy 4q and partial monosomy 18q as a consequence of a paternal balanced translocation t(4q−;18q+). Hum Genet 25, 227–233 (1974). https://doi.org/10.1007/BF00281431

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  • DOI: https://doi.org/10.1007/BF00281431

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