Clinical Report

ICF syndrome: High variability of the chromosomal phenotype and association with classical Hodgkin lymphoma†

  1. C. Schuetz1,
  2. G. Barbi2,*,
  3. T.F.E. Barth3,
  4. M. Hoenig1,
  5. A. Schulz1,
  6. P. Möeller3,
  7. D. Smeets4,
  8. J.C. de Greef5,
  9. S.M. van der Maarel5,
  10. W. Vogel2,
  11. K.-M. Debatin1,
  12. W. Friedrich1

Article first published online: 13 AUG 2007

DOI: 10.1002/ajmg.a.31885

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 143A, Issue 17, pages 2052–2057, 1 September 2007

Additional Information

How to Cite

Schuetz, C., Barbi, G., Barth, T., Hoenig, M., Schulz, A., Möeller, P., Smeets, D., de Greef, J., van der Maarel, S., Vogel, W., Debatin, K.-M. and Friedrich, W. (2007), ICF syndrome: High variability of the chromosomal phenotype and association with classical Hodgkin lymphoma. American Journal of Medical Genetics Part A, 143A: 2052–2057. doi: 10.1002/ajmg.a.31885

Author Information

  1. 1

    Department of Pediatrics and Adolescent Medicine, University Hospital, Ulm, Germany

  2. 2

    Institute of Human Genetics, University of Ulm, Ulm, Germany

  3. 3

    Institute of Pathology, University of Ulm, Ulm, Germany

  4. 4

    Department of Human Genetics, University Hospital St. Radboud, Nijmegen, The Netherlands

  5. 5

    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

*University Hospital Ulm, Institute of Human Genetics, Parkstr. 11, D-89073 Ulm, Germany.

  1. †

    How 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.

Publication History

  1. Issue published online: 17 AUG 2007
  2. Article first published online: 13 AUG 2007
  3. Manuscript Accepted: 6 MAY 2007
  4. Manuscript Received: 20 DEC 2006

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Keywords:

  • ICF syndrome;
  • centromeric heterochromatin instability;
  • hypomethylation;
  • Hodgkin lymphoma;
  • neoplasia;
  • tumor

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 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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