New chromosomal dysmorphic syndromes

@article{StengelRutkowski2004NewCD,
  title={New chromosomal dysmorphic syndromes},
  author={Sabine Stengel-Rutkowski and A. A. Albert and J. D. Murken and K. Zahn-Messow and Alexander Rodewald and Merve Zankl and Helmut Saule and Jon Stene},
  journal={European Journal of Pediatrics},
  year={2004},
  volume={136},
  pages={249-262}
}
This is the report of two independent families in which a balanced maternal translocation led to trisomy 12p in one of each their offspring. Evaluation of 21 further case reports indicates that this is a phenotypically well defined syndrome which leads to severe developmental retardation. It can be recognized by a characteristic combination of craniofacial… CONTINUE READING