Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14

Abstract

Abstract A severe Angelman syndrome (AS) patient with a very large deletion (19.3 Mb) at 15q11.2‐q14 required laryngotracheal separation, which is not a common surgery in AS. Comparative genomic hybridization‐based microarrays can be useful to confirm deletion size and clinical severity.

Keywords

• angelman syndrome
• aspiration pneumonia
• bedridden
• chromosome 15
• laryngotracheal separation