Human Genetics

, Volume 80, Issue 1, pp 16–22 | Cite as

X-chromosome polysomy in the male

The Leuven experience 1966–1987
  • Alice Kleczkowska
  • Jean-Pierre Fryns
  • Herman Van den Berghe
Original Investigations


A review of 569 male patients with X-chromosome polysomies (544 Klinefelter and 25 patients with other types of X-chromosome polysomy) is presented here. These patients were detected among the 77000 persons karyotyped in the Leuven cytogenetic center between the years 1966 and 1987. In the group of 544 Klinefelter patients special attention was paid to (1) the age at diagnosis, (2) social and marital status of the postpubertal males, (3) physical and intellectual abilities of the prepubertal boys, (4) delineation of the concurrence of Klinefelter syndrome and fragile X syndrome, and (5) the frequency of malignancies. In 25 patients with other X-chromosome polysomies (2 n≥48 chromosomes) genotype/phenotype correlation is reviewed, especially for the patients with 48,XXYY and 49,XXXXY karyotypes. Finally, double aneuploidy and rare structural X-chromosome aberrations are briefly discussed.


Internal Medicine Marital Status Metabolic Disease Male Patient Intellectual Ability 
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 1988

Authors and Affiliations

  • Alice Kleczkowska
    • 1
  • Jean-Pierre Fryns
    • 1
  • Herman Van den Berghe
    • 1
  1. 1.Centre for Human GeneticsU.Z. GasthuisbergLeuvenBelgium

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