Pentasomy 49,XXXXY Diagnosed in utero: Case Report and Systematic Review of Antenatal Findings

@article{Peitsidis2009Pentasomy4D,
  title={Pentasomy 49,XXXXY Diagnosed in utero: Case Report and Systematic Review of Antenatal Findings},
  author={P. Peitsidis and E. Manolakos and A. Peitsidou and M. Petersen and P. Tsoplou and R. Kadir and E. Agapitos},
  journal={Fetal Diagnosis and Therapy},
  year={2009},
  volume={26},
  pages={1 - 5}
}
  • P. Peitsidis, E. Manolakos, +4 authors E. Agapitos
  • Published 2009
  • Medicine
  • Fetal Diagnosis and Therapy
  • Objectives: Pentasomy 49,XXXXY is a rare sex chromosome polysomy usually diagnosed postnatally by the combina- tion of mental retardation, facial dysmorphism, and genital, cardiac and skeletal malformations. Prenatal detection of 49,XXXXY is unusual and may be incidental due to non-specific ultrasound (US) findings. We report a case of 49,XXXXY diagnosed prenatally and present a literature review of the few prenatally diagnosed cases. Methods: We searched the PubMed electronic database without… CONTINUE READING
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    Early prenatal diagnosis of 49,XXXXY: two case reports

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