A Healthy, Female Chimera with 46,XX/46,XY Karyotype

  title={A Healthy, Female Chimera with 46,XX/46,XY Karyotype},
  author={M. Binkhorst and N. de Leeuw and B. Otten},
  journal={Journal of Pediatric Endocrinology and Metabolism},
  pages={102 - 97}
We report a healthy and unambiguously female newborn, whose phenotypic sex contradicted the expected male sex based on previously performed prenatal cytogenetic analysis. Both 46,XX and 46,XY cells were detected in a villus sample, the former having been attributed to maternal cell contamination. Postnatal karyotyping in peripheral lymphocytes confirmed the presence of two cell lines, one 46,XX (70%) and one 46,XY (30%). After exclusion of alternative explanations for the observed genotype, a… Expand
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