, Volume 4, Issue 2, pp 136–139 | Cite as

Turner's syndrome in the male with chromosomal mosaicism

  • R. A. Pfeiffer
  • I. H. Pawlowitzki
Original Investigations


A chromosomal mosaic XO/XY (+estra chromosome) with unequal distribution of the cells lines in blood cells and in fibroblasts is described in a boy with typical traits of Turner's syndrome.


Internal Medicine Blood Cell Metabolic Disease Unequal Distribution Typical Trait 
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.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Ross, G. T., J. M. Holland, W. S. Kiser, and G. W. Douglas: XO/XY chromosomal mosaicism and extragenital stigmata of Turner's syndrome in a phenotypic male. J. clin. Endocr. 25, 141 (1965).Google Scholar
  2. 2.
    Schoen, E. J.: Diminished testicular function in male Turner's syndrome. J. clin. Endocr. 25, 101 (1965).Google Scholar
  3. 3.
    Oikawa, K., and R. Blizzard: Chromosomal studies of patients with congenital anomalies simulating those of gonadal aplasia. New Engl. J. Med. 264, 1009 (1961).Google Scholar
  4. 4.
    Solomon, I. L., Ch. W. Hamm, and O. C. Green: Chromosome studies on testicular tissue cultures and blood leukocytes of a male previously reported to have no Y chromosome. New Engl. J. Med. 271, 586 (1964).Google Scholar
  5. 5.
    Klevit H. D., W. J. Mellman, and W. R. Eberlein: Triple mosaicism with an isochromosome derived from a partially deleted Y in a male pseudohermaphrodite. Pediatries 32, 56 (1963).Google Scholar
  6. 6.
    Pers. Observations, 1965.Google Scholar
  7. 7.
    Scharfenberg, W.: Inaug.-Diss. Münster 1967.Google Scholar
  8. 8.
    Ferguson-Smith, M. A.: Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. med. Genet. 2, 142 (1965).Google Scholar
  9. 9.
    Bloise, W., L. M. de Assis, C. Bottura, and I. Ferrari: Gonadal dysgenesis (Turner's syndrome) with male phenotype and XO chromosomal constitution. Lancet 1960/II, 1059.Google Scholar

Copyright information

© Springer-Verlag 1967

Authors and Affiliations

  • R. A. Pfeiffer
    • 1
  • I. H. Pawlowitzki
    • 1
  1. 1.Institut für Humangenetik der Westfälischen WilhelmsUniversität MünsterMunsterGermany

Personalised recommendations