Summary
Leukocyte cultures of a 16-year-old boy who was considered to have Klinefelter syndrome were examined. A 46,XX karyotype was found in 390 mitoses. In only 10 mitoses we could find a fragment beside the normal female karyotype. Clinical and cytogenetic findings indicate that the fragment consists of the weak fluorescent part of a Y chromosome. This case therefore supports the mosaicism theory for the origin of 46,XX males.
Zusammenfassung
Bei einem 16jährigen jungen Mann mit Verdacht auf ein Klinefelter-Syndrom wurde in 390 Mitosen aus Leukocyten-Kulturen ein Karyotyp mit den Gonosomen XX festgestellt. In nur 10 Mitosen konnte zusätzlich zu dem weiblichen Karyotyp ein Fragment gefunden werden. Die klinischen und cytogenetischen Befunde weisen darauf hin, daß es sich bei dem Fragment um den schwach fluorescierenden Anteil eines Y-Chromosoms handelt. Unser Fall unterstützt somit die Mosaiktheorie als eine mögliche Erklärung für die Genese der 46,XX-Männer.
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Bartsch-Sandhoff, M., Schade, H., Wiegelmann, W. et al. Ein Beitrag zur Genese von XX-Männern. Hum Genet 21, 245–253 (1974). https://doi.org/10.1007/BF00279019
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DOI: https://doi.org/10.1007/BF00279019