Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14
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.
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-11-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6545 |
| _version_ | 1811209434196606976 |
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| author | Yohei Horikawa Shuichi Yatsuga Takashi Ohya Yuki Okamatsu |
| author_facet | Yohei Horikawa Shuichi Yatsuga Takashi Ohya Yuki Okamatsu |
| author_sort | Yohei Horikawa |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T04:39:20Z |
| format | Article |
| id | doaj.art-afd5a81735ec47e7adc463124626543a |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-04-12T04:39:20Z |
| publishDate | 2022-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-afd5a81735ec47e7adc463124626543a2022-12-22T03:47:42ZengWileyClinical Case Reports2050-09042022-11-011011n/an/a10.1002/ccr3.6545Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14Yohei Horikawa0Shuichi Yatsuga1Takashi Ohya2Yuki Okamatsu3Iizuka Hospital Department of Pediatrics Iizuka JapanIizuka Hospital Department of Pediatrics Iizuka JapanIizuka Hospital Department of Pediatrics Iizuka JapanIizuka Hospital Department of Pediatrics Iizuka JapanAbstract 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.https://doi.org/10.1002/ccr3.6545angelman syndromeaspiration pneumoniabedriddenchromosome 15laryngotracheal separation |
| spellingShingle | Yohei Horikawa Shuichi Yatsuga Takashi Ohya Yuki Okamatsu Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2–q14 Clinical Case Reports angelman syndrome aspiration pneumonia bedridden chromosome 15 laryngotracheal separation |
| 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 | angelman syndrome aspiration pneumonia bedridden chromosome 15 laryngotracheal separation |
| url | https://doi.org/10.1002/ccr3.6545 |
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