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Multiple Mißbildungen bei einem Mädchen mit dem Karyotypus 46, XY, 17q+

Multiple malformations in a girl of karyotype 46, XY, 17q+

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Summary

In a girl with multiple malformations (Pierre Robin syndrome, abortive form of dysostosis cleidocranialis, and other deformities) a spontaneous duplication-deficiency as well as the XY sex chromosomes were found. Detailed cytogenetic analysis revealed a deficiency of the distal half of the long arm of a chromosome 17. The duplication involves a region of the size of the long arm of chromosome 18. The combination of malformations as well as the autoradiographic pattern does not exclude the possibility that indeed a region of the long arm of chromosome 18 is involved.

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Authors and Affiliations

  1. Institut für Humangenetik und Anthropologie (Direktor: Prof. Dr. Dr. H. Baitsch) der Universität Freiburg i. Br., Freiburg i. Br, Deutschland

    W. Engel, H. Reinwein, D. Bombel, H. Ritter & U. Wolf

  2. Kinderklinik (Direktor: Prof. Dr. W. Künzer) der Universität Freiburg i. Br., Freiburg i. Br, Deutschland

    W. Engel, H. Reinwein, D. Bombel, H. Ritter & U. Wolf

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  1. W. Engel
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  2. H. Reinwein
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  3. D. Bombel
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  4. H. Ritter
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  5. U. Wolf
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Wesentliche Teile der vorliegenden Arbeit werden von Herrn Dieter Bombel als Dissertation der Medizinischen Fakultät der Universität Freiburg i. Br. vorgelegt.

Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.

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Engel, W., Reinwein, H., Bombel, D. et al. Multiple Mißbildungen bei einem Mädchen mit dem Karyotypus 46, XY, 17q+. Hum Genet 6, 311–325 (1968). https://doi.org/10.1007/BF00286800

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