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Article

Altered Intra-Nuclear Organisation of Heterochromatin and Genes in ICF Syndrome

29 Jun 2010

Abstract excerpt

The ICF syndrome is a rare autosomal recessive disorder, the most common symptoms of which are immunodeficiency, facial anomalies and cytogenetic defects involving decondensation and instability of chromosome 1, 9 and 16 centromeric regions. ICF is also characterised by significant hypomethylation of the classical satellite DNA, the major constituent of the juxtacentromeric heterochromatin. Here we report the...

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PMID: 20613881
DOI: 10.1371/journal.pone.0011364

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