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)

MeSH terms

• Centromere / genetics*
• Child, Preschool
• Chromosomes, Human, Pair 11 / genetics*
• Complement C1 Inhibitor Protein / genetics*
• Cryptorchidism / diagnosis
• Cryptorchidism / genetics*
• Gene Rearrangement
• Hereditary Angioedema Types I and II / diagnosis
• Hereditary Angioedema Types I and II / genetics*
• Humans
• Male
• Microcephaly / diagnosis
• Microcephaly / genetics*
• Mutation / genetics*
• Pedigree