Skip to main content
Log in

Turner's syndrome in the male with chromosomal mosaicism

  • Original Investigations
  • Published:
Humangenetik Aims and scope Submit manuscript

Abstract

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

Literature

  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. Schoen, E. J.: Diminished testicular function in male Turner's syndrome. J. clin. Endocr. 25, 101 (1965).

    Google Scholar 

  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. 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. 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. Pers. Observations, 1965.

  7. Scharfenberg, W.: Inaug.-Diss. Münster 1967.

  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. 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.

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Pfeiffer, R.A., Pawlowitzki, I.H. Turner's syndrome in the male with chromosomal mosaicism. Hum Genet 4, 136–139 (1967). https://doi.org/10.1007/BF00291258

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00291258

Keywords

Navigation