New findings in partial trisomy 16q: clinical report.

@article{Sousa2004NewFI,
  title={New findings in partial trisomy 16q: clinical report.},
  author={Benesson Sousa and Gustavo Rocha and Sofia D{\'o}ria and Jos{\'e} Roberto Alves and Ben Guedes and Herc{\'i}lia Areias Guimar{\~a}es},
  journal={Acta paediatrica},
  year={2004},
  volume={93 6},
  pages={852-4}
}
UNLABELLED Partial trisomy 16q is a rare disorder associated with significant dysmorphism, psychomotor retardation and limited postnatal survival. A female infant with a partial trisomy 16q from a de novo translocation 11;16 is described. Clinical findings were consistent with previous reports, with the exceptions of megalocornea, partial callosal agenesis and mild bilateral occipital lobe hypoplasia. CONCLUSION Based on this clinical report, megalocornea, partial callosal agenesis and mild… CONTINUE READING