Human Genetics

, Volume 52, Issue 1, pp 69–77 | Cite as

X pentasomy: A case and review

  • Nicoletta Archidiacono
  • M. Rocchi
  • M. Valente
  • G. Filippi
Original Investigations


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.


Internal Medicine Metabolic Disease Mental Retardation Typical Feature Similar Case 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag 1979

Authors and Affiliations

  • Nicoletta Archidiacono
    • 1
  • M. Rocchi
    • 1
  • M. Valente
    • 2
  • G. Filippi
    • 1
  1. 1.Cattedra di Genetica MedicaUniversità di Trieste, Istituto per l'Infanzia di TriesteTriesteItaly
  2. 2.Clinica PediatricaUniversità di Trieste, Istituto per l'Infanzia di TriesteTriesteItaly

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