Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome

Epidemiology and Etiology:

· Mutation of DNA methyltransferase 3B gene (most cases)

· Hypomethylation of satellites II and III within pericentromeric heterochromatin

· Increased interchange within heterochromatic regions

Common sites:

·

Gross features:

· Unusual facies

· Growth retardation

Histologic features:

·

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

· “windmill” multiradials

· Chromosomes 1, 9, and 16

· Formed by interchange within heterochromatic regions

·

Other features:

· Immunodeficiency

· Developmental retardation

References:

· Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counseling. Oxford University Press; 2004.