Prenatal diagnosis of monosomy 4p14-->pter and trisomy 11q25-->qter: clinical presentations and outcomes.

@article{Peng2005PrenatalDO,
  title={Prenatal diagnosis of monosomy 4p14-->pter and trisomy 11q25-->qter: clinical presentations and outcomes.},
  author={H H Peng and Tzu-Hao Wang and An-shine Chao and Yao-lung Chang and Shuenn-dyh Chang and Y S Soong},
  journal={Prenatal diagnosis},
  year={2005},
  volume={25 12},
  pages={1133-7}
}
We present the case of a pregnant woman with low free beta-HCG in maternal serum Down syndrome screening that led to prenatal diagnosis of a fetus with 46,XY,der(4)t(4;11)(p14; q25). This chromosomal aneuploidy resulted from unbalanced segregation of a paternal balanced translocation, t(4;11)(p14;q25). Prenatal ultrasound revealed intrauterine growth… CONTINUE READING