14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies.

@article{Mertens200014qTD,
  title={14q terminal deletion: prenatal diagnosis in a child with severe congenital anomalies.},
  author={Don J Mertens and Christine E M de Die-Smulders and P H Kampsch{\"o}er and Jos P. M. Offermans and J. J. Engelen and A. J. H. Hamers and Martin Lammens and Constance T. R. M. Schrander-Stumpel},
  journal={Genetic counseling},
  year={2000},
  volume={11 4},
  pages={341-6}
}
A fetal patient presented at 27.3 weeks of gestation with polyhydramnion. Ultrasound examination showed enlarged cerebral ventricles, abnormal position of the fingers and abnormal external genitals. Chromosome studies in chorionic villus material were normal male: in cultured amniocytes a distal deletion 14q32 was demonstrated and confirmed by FISH analysis… CONTINUE READING