Humangenetik

, Volume 19, Issue 3, pp 337–340

X0 Karyotype in a phenotypic male

Authors

  • Pushpa Bhatia
    • Department of GeneticsIndian Agricultural Research Institute
    • Department of PediatricsWillingdon Hospital
  • R. A. Pai
    • Department of GeneticsIndian Agricultural Research Institute
    • Department of PediatricsWillingdon Hospital
  • K. P. S. Varma
    • Department of GeneticsIndian Agricultural Research Institute
    • Department of PediatricsWillingdon Hospital
Clinical Case Reports

DOI: 10.1007/BF00278415

Cite this article as:
Bhatia, P., Pai, R.A. & Varma, K.P.S. Hum Genet (1973) 19: 337. doi:10.1007/BF00278415
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Summary

A 24-year-old male with ambiguous genitalia was found to have a predominantly 45,X chromosomal constitution. The clinical and cytological findings in this patient are presented in the report. The possible mode of origin of this aberrant phenotype due to chromosome mosaicism of 45,X/46,XY type during early embryogenesis and subsequent elimination of 46,XY cell line is discussed.

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© Springer-Verlag 1973