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

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.

Detalles Bibliográficos
Autores principales: Horikawa, Yohei, Yatsuga, Shuichi, Ohya, Takashi, Okamatsu, Yuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9638081/
https://www.ncbi.nlm.nih.gov/pubmed/36381038
http://dx.doi.org/10.1002/ccr3.6545
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author Horikawa, Yohei
Yatsuga, Shuichi
Ohya, Takashi
Okamatsu, Yuki
author_facet Horikawa, Yohei
Yatsuga, Shuichi
Ohya, Takashi
Okamatsu, Yuki
author_sort Horikawa, Yohei
collection PubMed
description 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.
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spelling pubmed-96380812022-11-14 Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14 Horikawa, Yohei Yatsuga, Shuichi Ohya, Takashi Okamatsu, Yuki Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2022-11-06 /pmc/articles/PMC9638081/ /pubmed/36381038 http://dx.doi.org/10.1002/ccr3.6545 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Horikawa, Yohei
Yatsuga, Shuichi
Ohya, Takashi
Okamatsu, Yuki
Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14
title Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14
title_full Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14
title_fullStr Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14
title_full_unstemmed Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14
title_short Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14
title_sort laryngotracheal separation surgery in a patient with severe angelman syndrome involving a 19.3 mb deletion on 15q11.2–q14
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9638081/
https://www.ncbi.nlm.nih.gov/pubmed/36381038
http://dx.doi.org/10.1002/ccr3.6545
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