Two siblings with ICF syndrome: Case reports and review

Tukun A., Bokesoy I., Gursel T., Tumer L., Tunaoglu S., Uluoglu O.

Dysmorphology and Clinical Genetics, vol.6, no.3, pp.135-140, 1992 (Scopus) identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 3
  • Publication Date: 1992
  • Journal Name: Dysmorphology and Clinical Genetics
  • Journal Indexes: Scopus
  • Page Numbers: pp.135-140
  • Keywords: Centromeric heterochromatin instability, Variable immunodeficiency
  • Ankara University Affiliated: Yes

Abstract

Ten patients with the syndrome of immunodeficiency, centromeric heterochromatin instability, and facial anomalies (ICF) have been reported. We report two siblings with this rare syndrome. The main characteristics, especially cytogenetic variations and some possible etiopathologic events, are discussed.