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XXXX syndrome: Case report, and a note on genetic counselling and fertility

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Summary

The 19th reported case of the XXXX syndrome is described. The possibility that short-wave diathermy treatment given to the mother around the time of conception may have been the cause of the condition is considered. Implications for genetic counselling in the XXXX syndrome are discussed. Data on the ovarian function of 11 pubertal and post-pubertal XXXX females are tabulated, and it is suggested that fertility is probably considerably reduced.

Zusammenfassung

Der hier berichtete Fall von XXXX-Syndrom ist der 19. in der Literatur. Es wird die Möglichkeit erwogen, daß die Kurzwellen-Diathermie-Behandlung der Mutter und die Zeit der Konzeption die Ursache der Chromosomenaberration ist. Die Gesichtspunkte, die für die genetische Beratung beim XXXX-Syndrom von Bedeutung sind, werden diskutiert. Die Daten der ovariellen Funktion von insgesamt 11 XXXX-Trägerinnen im Pubertäts- und Nachpubertätsalter sind tabellarisch zusammengefaßt, und es wird darauf hingewiesen, daß ihre Fruchtbarkeit vermutlich beträchtlich reduziert ist.

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Gardner, R.J.M., Veale, A.M.O., Sands, V.E. et al. XXXX syndrome: Case report, and a note on genetic counselling and fertility. Hum Genet 17, 323–330 (1973). https://doi.org/10.1007/BF00273187

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