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Case Reports
Turner Phenotype: Mosaic 45,X/47,XY,+18
  1. A. Schinzel1,
  2. W. Schmid1,
  3. A. Prader1
  1. Division of Medical Genetics, Department of Paediatrics, University of Zurich, Switzerland
  2. Division of Medical Genetics, Department of Paediatrics, University of Zurich, Switzerland

    Abstract

    A 14-year-old girl with Turner phenotype is described, whose lymphocyte and skin fibroblast cultures both revealed a 45,X/47,XY,+18 chromosomal mosaicism. In blood cultures one third and in fibroblasts 7% of the cells had 47 chromosomes. The identity of the Y and the supernumerary 18 were determined by fluorescence and Giemsa banding patterns. The patient is of normal intelligence and does not exhibit any signs of masculinization or stigmata of trisomy 18.

    https://doi.org/10.1136/jmg.11.1.101

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      Footnotes

      • ↵* Reprint requests to: Professor W. Schmid, Abteilung für Medizinische Genetik; Kinderspital Zürich, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland.