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Combined klinefelter-Down syndrome or XXYY syndrome?

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Summary

A case of 48,XXYY constellation is described to demonstrate that both the fluorescence-banding technique and the papillar pattern allow a clear differential diagnosis from the 48,XXY,G+ syndrome, regardless of the clinical appearance.

Zusammenfassung

An Hand eines Falles von 48,XXYY-Konstellation wird demonstriert, daß sowohl die Fluoresenzbandentechnik als auch der Hautleistenbefund eine sichere Differentialdiagnose zum 48,XXY,G+-Syndrom, unabhängig vom klinischen Erscheinungsbild, erlauben.

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Author information

Authors and Affiliations

  1. Kinderklinik und-poliklinik der Technischen Universität München, Muchen, Germany

    H. Singer

  2. Max-Planck-Institut für Psychiatrie, München, Germany

    H. Zankl

  3. Institut für Anthropologie und Humangenetik der Universität München, Muchen, Germany

    A. Rodewald-Rudescu

Authors
  1. H. Singer
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  2. H. Zankl
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  3. A. Rodewald-Rudescu
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Singer, H., Zankl, H. & Rodewald-Rudescu, A. Combined klinefelter-Down syndrome or XXYY syndrome?. Hum Genet 19, 261–264 (1973). https://doi.org/10.1007/BF00278399

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  • DOI: https://doi.org/10.1007/BF00278399

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