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Research Article
A case of complete testicular feminisation and 47,XXY karyotype.
  1. M Gerli,
  2. G Migliorini,
  3. V Bocchini,
  4. G Venti,
  5. R Ferrarese,
  6. E Donti,
  7. G Rosi

    Abstract

    A very rare case of complete testicular feminisation with a 47,XXY sex chromosome complement is described. The X-chromatin is positive. The subject studied, who belongs to a family in which four other members have Morris's syndrome and have a 46,XY karyotype, is a perfect phenotypic female. The endocrine situation is unique and resembles, in part, that of subjects with Klinefelter's syndrome.

    https://doi.org/10.1136/jmg.16.6.480

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