ICF syndrome: High variability of the chromosomal phenotype and association with classical Hodgkin lymphomaHow to cite this article: Schuetz C, Barbi G, Barth TFE, Hoenig M, Schulz A, Möeller P, Smeets D, de Greef JC, van der Maarel SM, Vogel W, Debatin K‐M, Friedrich W. 2007. ICF syndrome: High variability of the chromosomal phenotype and association with classical Hodgkin lymphoma. Am J Med Genet Part A 143A:2052–2057.

Autor: Schuetz, C., Barbi, G., Barth, T.F.E., Hoenig, M., Schulz, A., Möeller, P., Smeets, D., de Greef, J.C., van der Maarel, S.M., Vogel, W., Debatin, K.‐M., Friedrich, W.
Zdroj: American Journal of Medical Genetics. Part A; September 2007, Vol. 143 Issue: 17 p2052-2057, 6p
Abstrakt: 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 α‐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. © 2007 Wiley‐Liss, Inc.
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