title: ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma.
abstract: We report on two sibs with ICF syndrome (immunodeficiency, centromeric heterochromatin instability, and facial anomalies) diagnosed in the elder brother based on the typical chromosomal abnormalities present in 56% of metaphases from cultured lymphocytes. In a previous cytogenetic analysis this diagnosis had been missed due to low manifestation of the ICF chromosomal phenotype. Hypomethylation of classical satellites 2 and 3, and of alpha-satellite DNA was shown in the lymphocytes of the younger sister. At 7 years of age the boy presented with hemiplegia due to tumerous invasion of the right brachial plexus. Histopathology revealed classical Hodgkin lymphoma, a neoplasia which might have been facilitated by the underlying genetic defect.
authors: Department of Pediatrics and Adolescent Medicine, University Hospital, Ulm, Germany.
authors: C
authors: C
authors: Schuetz
authors: G
authors: G
authors: Barbi
authors: T F E
authors: TF
authors: Barth
authors: M
authors: M
authors: Hoenig
authors: A
authors: A
authors: Schulz
authors: P
authors: P
authors: Möeller
authors: D
authors: D
authors: Smeets
authors: J C
authors: JC
authors: de Greef
authors: S M
authors: SM
authors: van der Maarel
authors: W
authors: W
authors: Vogel
authors: K-M
authors: KM
authors: Debatin
authors: W
authors: W
authors: Friedrich
mesh_terms: D002503:Centromere / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D043171:Chromosomal Instability / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D014644:Genetic Variation; D006570:Heterochromatin / Q000235:genetics; D006689:Hodgkin Disease / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010641:Phenotype
chemical_list: D006570:Heterochromatin