ICF syndrome with variable expression in sibs.

  title={ICF syndrome with variable expression in sibs.},
  author={Giorgio Gimelli and Paolo Varone and Annalisa Pezzolo and Margherita Lerone and Vito Pistoia},
  journal={Journal of medical genetics},
  volume={30 5},
We describe a new familial case of ICF syndrome (immunodeficiency, centromeric instability, facial anomalies) in a woman of 29 years and in her brother of 30 years. The proband showed mental retardation, facial anomalies, recurrent respiratory infections, combined deficit of IgM and IgE immunoglobulin classes, and paracentromeric heterochromatin instability of chromosomes 1, 9, and 16. The brother had minor signs of the syndrome and had an apparently normal phenotype. Their parents were healthy… CONTINUE READING