Sex chromosome pentasomy (49,XXXXY) presenting as cystic hygroma at 16 weeks' gestation.

@article{Sepulveda1999SexCP,
  title={Sex chromosome pentasomy (49,XXXXY) presenting as cystic hygroma at 16 weeks' gestation.},
  author={W Sepulveda and Mira Ivankovi{\'c} and Cecilia Be and Ronald Youlton},
  journal={Prenatal diagnosis},
  year={1999},
  volume={19 3},
  pages={257-9}
}
The pentasomy 49,XXXXY is one of the rarest sex chromosome defects, occurring with an estimated incidence of 1 in 85 000 male births. This condition is associated with pre- and postnatal growth deficiency, severe mental retardation, hypogenitalism, and other skeletal, facial and cardio-vascular anomalies. In this report we present such a case diagnosed… CONTINUE READING