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

Yohei Horikawa; Shuichi Yatsuga; Takashi Ohya; Yuki Okamatsu

doi:10.1002/ccr3.6545

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

Clin Case Rep. 2022 Nov 6;10(11):e6545. doi: 10.1002/ccr3.6545. eCollection 2022 Nov.

Authors

Yohei Horikawa¹, Shuichi Yatsuga^{1

2}, Takashi Ohya¹, Yuki Okamatsu¹

Affiliations

¹ Iizuka Hospital Department of Pediatrics Iizuka Japan.
² Fukuoka University Department of Pediatrics Fukuoka Japan.

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.

Publication types

Case Reports