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Transmission of the marker X syndrome trait by unaffected males: Conclusions from studies of large families

Summary

It is well established that apparently unaffected males can be transmitters of the marker X syndrome trait. Cytogenetic and clinical investigations of these male transmitters are only rarely reported for most of these male transmitters are dead by the time the syndrome is diagnosed in their families. We report on cytogenetic and clinical investigations of two unaffected male carriers of the disorder from two large families. Pedigree analysis of these families revealed six other cases of possible male transmission of the marker X syndrome trait. Mental impairment was not reported from the siblings of these unaffected male carriers and could not be observed in their daughters. The mode of transmission of the disorder cannot be fully explained by X-linked inheritance. The phenomenon of unaffected males transmitting the disorder could be due to an autosomal suppressor systeme. Our findings indicate that male transmission may be important for the frequency of the disorder.

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Correspondence to Ursula Froster-Iskenius.

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Froster-Iskenius, U., Schulze, A. & Schwinger, E. Transmission of the marker X syndrome trait by unaffected males: Conclusions from studies of large families. Hum Genet 67, 419–427 (1984). https://doi.org/10.1007/BF00291403

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Keywords

  • Internal Medicine
  • Metabolic Disease
  • Large Family
  • Clinical Investigation
  • Mental Impairment