ICF syndrome: a new case and review of the literature

Hum Genet. 1994 Sep;94(3):240-6. doi: 10.1007/BF00208277.


Patients with ICF syndrome can be recognized by the presence of a variable immunodeficiency, instability of the pericentromeric heterochromatin of, in particular, chromosomes 1, 9, and 16 in cultured peripheral lymphocytes, and a number of facial anomalies. Recently, aberrations at the molecular level have been described, consisting of alterations in the methylation pattern of classical satellite DNA, in a number of patients. ICF syndrome is considered to be inherited in an autosomal recessive manner and may be rare, as only 14 patients have been described thus far. We present a new case, a boy with agammaglobulinemia, who was extensively studied by means of classical cytogenetics and fluorescent in situ hybridization. All patients previously reported in the literature are reviewed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Agammaglobulinemia / genetics*
  • Centromere*
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 16
  • Chromosomes, Human, Pair 9
  • Face / abnormalities*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male
  • Syndrome