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Article

ICF syndrome with variable expression in sibs.

Journal of medical genetics - 1 May 1993

Gimelli G, Varone P, Pezzolo A, Lerone M, Pistoia V

Abstract excerpt

We describe a new familial case of ICF syndrome (immunodeficiency, centromeric instability, facial anomalies) in a woman of 29 years and in her brother of 30 years. The proband showed mental retardation, facial anomalies, recurrent respiratory infections, combined deficit of IgM and IgE immunoglobulin classes, and paracentromeric heterochromatin instability of chromosomes 1, 9, and 16. The brother had minor signs...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 8320711
DOI: 10.1136/jmg.30.5.429
PMCID: PMC1016386

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Source receipt: pubmed, retrieved 7 Sept 2026.

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