Premature ovarian failure due to tetrasomy X in an adolescent girl

@article{Kara2013PrematureOF,
  title={Premature ovarian failure due to tetrasomy X in an adolescent girl},
  author={C. Kara and A. {\"U}styol and A. Yılmaz and Engin Altundag and G. Oǧur},
  journal={European Journal of Pediatrics},
  year={2013},
  volume={173},
  pages={1627-1630}
}
Tetrasomy X associated with premature ovarian failure has been described in a few patients, and the parental origin of the extra X chromosomes has not been investigated so far in this group. A 15-year-old girl with mental retardation and minor physical anomalies showed secondary amenorrhea, high gonadotropin levels, and osteoporosis. Molecular analysis of the fibroblast cells revealed pure 48,XXXX constitution despite 48,XXXX/47,XXX mosaicism in peripheral blood. Analysis of the polymorphic… Expand

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