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Y-chromatin positive cells in the smear preparations of the gonad from an XX male

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Summary

An ambisexual male infant showed a normal female karyotype by the leukocyteculture technique in two different occasions. Cultured fibroblasts from the right gonad had also a 46,XX complement. They were Y-chromatin negative. To our surprise, Y-chromatin was observed in 96% of the nuclei in smears from the uncultured gonad. It is emphasized that the examination of the uncultured gonad by the quinacrine technique is mandatory in the study of “XX males”.

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Authors and Affiliations

  1. Department of Human Genetics, National Institute of Genetics, Mishima, Japan

    K. Iinuma, T. Ohzeki, K. Ohtaguro, E. Higashihara, A. Tanae & Y. Nakagome

  2. Department of Pediatrics and Urology, National Children's Hospital, Setagaya-ku, Tokyo, Japan

    K. Iinuma, T. Ohzeki, K. Ohtaguro, E. Higashihara, A. Tanae & Y. Nakagome

Authors
  1. K. Iinuma
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  2. T. Ohzeki
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  3. K. Ohtaguro
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  4. E. Higashihara
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  5. A. Tanae
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  6. Y. Nakagome
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Iinuma, K., Ohzeki, T., Ohtaguro, K. et al. Y-chromatin positive cells in the smear preparations of the gonad from an XX male. Hum Genet 30, 193–196 (1975). https://doi.org/10.1007/BF00291954

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  • DOI: https://doi.org/10.1007/BF00291954

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