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Ein Fall von XX/XY-Chimärismus mit normalem männlichen Habitus

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Summary

The clinical, serological and cytogenetic findings of a phenotypic normal male with severe oligospermia are described. His somatic cells are composed of about equal amounts of male and female cells. The testes showed no XX cells. While the serological findings gave no indication for chimerism, a difference between both stem lines concerning chromosome pair No. 3 could be demonstrated by fluorescence microscopy. The etiology is discussed.

Zusammenfassung

Es werden die klinischen, serologischen und cytogenetischen Befunde eines phänotypisch normalen Mannes mit schwerer Oligospermie beschrieben. Seine Körperzellen bestehen zu etwa gleichen Anteilen aus männlichen und weiblichen Zellen. In den Testes dagegen wurde keine XX-Linie gefunden. Während die blutserologische Untersuchung keinen zusätzlichen Hinweis auf Chimärismus ergab, konnte fluorescenzmikroskopisch bei dem Chromosomenpaar Nr. 3 ein Unterschied zwischen den beiden Stammlinien nachgewiesen werden. Die Ätiologie wird diskutiert.

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Herrn Prof. Dr. G. Henneberg, Präsident des Bundesgesundheitsamtes, zum 65. Geburtstag gewidmet.

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Sperling, K., Kaden, R., Gillert, KE. et al. Ein Fall von XX/XY-Chimärismus mit normalem männlichen Habitus. Hum Genet 21, 237–244 (1974). https://doi.org/10.1007/BF00279018

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  • DOI: https://doi.org/10.1007/BF00279018

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