title: ICF syndrome: a new case and review of the literature.
abstract: 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.
authors.affiliation: Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
authors.forename: D F
authors.initials: DF
authors.lastname: Smeets
authors.forename: U
authors.initials: U
authors.lastname: Moog
authors.forename: C M
authors.initials: CM
authors.lastname: Weemaes
authors.forename: G
authors.initials: G
authors.lastname: Vaes-Peeters
authors.forename: G F
authors.initials: GF
authors.lastname: Merkx
authors.forename: J P
authors.initials: JP
authors.lastname: Niehof
authors.forename: G
authors.initials: G
authors.lastname: Hamers
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics*; D002503:Centromere; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D002899:Chromosomes, Human, Pair 9; D005145:Face / Q000002:abnormalities*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D013577:Syndrome