Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2-q14.
Yohei HorikawaShuichi YatsugaTakashi OhyaYuki OkamatsuPublished in: Clinical case reports (2022)
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.