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X pentasomy: A case and review

Summary

A 49,XXXXX girl is reported. The most typical features of the patient are: severe mental retardation, serious dental anomalies, various anomalies of the bones, and a high rate of gonadotropins. The few similar cases so far described are reviewed to aid in delineation of this rare syndrome. The implications of Lyon's hypothesis on X-aneuploidies are also discussed.

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Correspondence to Nicoletta Archidiacono.

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Archidiacono, N., Rocchi, M., Valente, M. et al. X pentasomy: A case and review. Hum Genet 52, 69–77 (1979). https://doi.org/10.1007/BF00284599

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Keywords

  • Internal Medicine
  • Metabolic Disease
  • Mental Retardation
  • Typical Feature
  • Similar Case