An emerging phenotype of proximal 11q deletions.

@article{Melis2010AnEP,
  title={An emerging phenotype of proximal 11q deletions.},
  author={Daniela Melis and Rita Genesio and Mariarosaria Cozzolino and Ennio Del Giudice and Angela Mormile and Floriana Imperati and Valentina Ronga and Roberto della Casa and Lucio Nitsch and Generoso Andria},
  journal={European journal of medical genetics},
  year={2010},
  volume={53 5},
  pages={340-3}
}
Few reports of small interstitial chromosome 11q deletions are reported in the literature and no clear genotype-phenotype correlation has been demonstrated. We describe a five years old boy who was referred to our attention because of the presence of ptosis of the left eyelid, iris coloboma and developmental delay. Clinical examination also revealed the presence of dysmorphic features including: low frontal hairline, flat profile, round face, full cheeks, periorbital fullness, hypertelorism… CONTINUE READING