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Article

ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma.

American journal of medical genetics. Part A - 1 Sept 2007

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

Abstract excerpt

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...

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PMID: 17702009
DOI: 10.1002/ajmg.a.31885

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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