Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 143A, Issue 17, Pages 2052-2057Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.31885
Keywords
ICF syndrome; centromeric heterochromatin instability; hypomethylation; Hodgkin lymphoma; neoplasia; tumor
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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. (c) 2007 Wiley-Liss, Inc.
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