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GTR Home > Conditions/Phenotypes > Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency

Synonyms
Centromeric instability, immunodeficiency syndrome; ICF syndrome; Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16; Immunodeficiency syndrome, variable; Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome; Immunodeficiency-centromeric instability-facial anomalies
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. [from ORDO]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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