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, cilt.6, sa.3, ss.135-140, 1992 (Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 3
  • Basım Tarihi: 1992
  • Dergi Adı: Dysmorphology and Clinical Genetics
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.135-140
  • Anahtar Kelimeler: Centromeric heterochromatin instability, Variable immunodeficiency
  • Ankara Üniversitesi Adresli: Evet

Özet

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.