Sex reversal in a child with duplication of sex reversing locus on the short arm of the X chromosome (Xp).

@article{Ito1996SexRI,
  title={Sex reversal in a child with duplication of sex reversing locus on the short arm of the X chromosome (Xp).},
  author={Toshihiro Ito and Yukikazu Kaino and Hisamaru Hirai and Kaichi Kida and Yutaka Nakahori and Yasuo Nakagome},
  journal={Journal of pediatric endocrinology & metabolism : JPEM},
  year={1996},
  volume={9 3},
  pages={429-33}
}
We report a child with a female phenotype possessing a karyotype of 46,XY,13p+. The child had female external genitalia, and manifested severe mental retardation, pulmonary atresia and multiple congenital abnormalities. Laparoscopy revealed the presence of streak gonads and Müllerian structures. Histological examination of the gonads showed ovarian-like stroma with immature seminiferous tubules. Chromosome and gene analyses demonstrated Xp11.23 (or 11.3)-pter duplication and an intact sex… CONTINUE READING

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