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A Japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability and diabetes mellitus: A case report
2p25.3 deletion syndrome is a rare genetic disorder that accompanies various phenotypic features, including early‐onset obesity and intellectual disability. Here, we report the first Japanese case of this deletion associated with severe obesity and diabetes mellitus. Microarray‐based comparative gen...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8847130/ https://www.ncbi.nlm.nih.gov/pubmed/34382350 http://dx.doi.org/10.1111/jdi.13645 |
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author | Sakaue, Taka‐aki Obata, Yoshinari Fujishima, Yuya Kozawa, Junji Otsuki, Michio Yamamoto, Toshiyuki Maeda, Norikazu Nishizawa, Hitoshi Shimomura, Iichiro |
author_facet | Sakaue, Taka‐aki Obata, Yoshinari Fujishima, Yuya Kozawa, Junji Otsuki, Michio Yamamoto, Toshiyuki Maeda, Norikazu Nishizawa, Hitoshi Shimomura, Iichiro |
author_sort | Sakaue, Taka‐aki |
collection | PubMed |
description | 2p25.3 deletion syndrome is a rare genetic disorder that accompanies various phenotypic features, including early‐onset obesity and intellectual disability. Here, we report the first Japanese case of this deletion associated with severe obesity and diabetes mellitus. Microarray‐based comparative genomic hybridization analysis identified a 3.1‐Mb deletion of distal chromosome band 2p25.3, which was suspected as de novo. The patient also presented bilateral cataracts and adolescent‐onset muscular weakness of the upper limbs, both of which were uncommon in previously reported cases. It is possible that these symptoms are also important clinical features suggestive of this syndrome. |
format | Online Article Text |
id | pubmed-8847130 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-88471302022-02-25 A Japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability and diabetes mellitus: A case report Sakaue, Taka‐aki Obata, Yoshinari Fujishima, Yuya Kozawa, Junji Otsuki, Michio Yamamoto, Toshiyuki Maeda, Norikazu Nishizawa, Hitoshi Shimomura, Iichiro J Diabetes Investig Case Reports 2p25.3 deletion syndrome is a rare genetic disorder that accompanies various phenotypic features, including early‐onset obesity and intellectual disability. Here, we report the first Japanese case of this deletion associated with severe obesity and diabetes mellitus. Microarray‐based comparative genomic hybridization analysis identified a 3.1‐Mb deletion of distal chromosome band 2p25.3, which was suspected as de novo. The patient also presented bilateral cataracts and adolescent‐onset muscular weakness of the upper limbs, both of which were uncommon in previously reported cases. It is possible that these symptoms are also important clinical features suggestive of this syndrome. John Wiley and Sons Inc. 2021-08-31 2022-02 /pmc/articles/PMC8847130/ /pubmed/34382350 http://dx.doi.org/10.1111/jdi.13645 Text en © 2021 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Case Reports Sakaue, Taka‐aki Obata, Yoshinari Fujishima, Yuya Kozawa, Junji Otsuki, Michio Yamamoto, Toshiyuki Maeda, Norikazu Nishizawa, Hitoshi Shimomura, Iichiro A Japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability and diabetes mellitus: A case report |
title | A Japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability and diabetes mellitus: A case report |
title_full | A Japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability and diabetes mellitus: A case report |
title_fullStr | A Japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability and diabetes mellitus: A case report |
title_full_unstemmed | A Japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability and diabetes mellitus: A case report |
title_short | A Japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability and diabetes mellitus: A case report |
title_sort | japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability and diabetes mellitus: a case report |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8847130/ https://www.ncbi.nlm.nih.gov/pubmed/34382350 http://dx.doi.org/10.1111/jdi.13645 |
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