Multibranched chromosomes in the ICF syndrome: immunodeficiency, centromeric instability, and facial anomalies

Am J Med Genet. 1989 Mar;32(3):420-4. doi: 10.1002/ajmg.1320320331.

Abstract

A new patient with the rare ICF syndrome (immunodeficiency, centromeric heterochromatin instability, and facial anomalies) is reported. The six patients previously reported in the literature are reviewed. The main clinical and cytogenetic characteristics of the syndrome are discussed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / immunology
  • Abnormalities, Multiple / pathology
  • Centromere*
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosomes*
  • Chromosomes, Human, Pair 1*
  • Face / abnormalities*
  • Female
  • Heterochromatin
  • Humans
  • Immunologic Deficiency Syndromes / congenital*
  • Immunologic Deficiency Syndromes / genetics
  • Karyotyping
  • Male
  • Phenotype
  • Prognosis
  • Syndrome

Substances

  • Heterochromatin