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Chromosomenmosaik C-Trisomie/normal

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Abstract

A chromosome mosaic with C-trisomy/normal is described in which the trisomic cells comprise approximately 24% (fascia lata). Sex-chromatin examined from fibroblasts was consistently absent; the additional C-chromosome is thought to be an autosome. Clinical data: Prematurely born male (hydramnion) with hypertelorism, micrognathia, macrocephalia, dysplasia of the pinnae, and cryptorchism; suspected congenital heart disease, collodion skin, increasing edema with hypernatriaemia and hyperchloraemia. Death on 9th day; autopsy refused.

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Literatur

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Authors and Affiliations

  1. Institut für Humangenetik und Anthropologie der Universität Freiburg i. Br., Freiburg, Deutschland

    U. Wolf & H. Reinwein

  2. Kinderklinik der Universität Freiburg i. Br., Freiburg, Deutschland

    U. Wolf & H. Reinwein

Authors
  1. U. Wolf
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  2. H. Reinwein
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Wolf, U., Reinwein, H. Chromosomenmosaik C-Trisomie/normal. Hum Genet 1, 686–687 (1966). https://doi.org/10.1007/BF00281057

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  • DOI: https://doi.org/10.1007/BF00281057

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