Association of hereditary angioedema type 1 with developmental anomalies due to a large and unusual de novo pericentromeric rearrangement of chromosome 11 spanning the entire C1 inhibitor gene (SERPING1)

We report the occurrence of a hereditary angioedema type 1 associated with developmental anomalies in a man with unaffected parents and/or relatives resulting from an unusual de novo pericentromeric rearrangement of chromosome 11 (11p11-12q12.2) sapping the complete SERPING1 gene.