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A Case of Type 2 Diabetes Mellitus With t(6;7)(q24;q31.2) Balanced Translocation
Most balanced translocations do not involve any gain or loss of genetic material, and individuals harboring these translocations remain clinically asymptomatic. Nevertheless, balanced translocations have reportedly been associated with several diseases. Here, we present the case of a 12-year-old boy...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elmer Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8827256/ https://www.ncbi.nlm.nih.gov/pubmed/35211231 http://dx.doi.org/10.14740/jmc3843 |
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author | Cho, Chiharu Kodo, Kazuki Goto, Sachiko Katsumi, Yoshiki |
author_facet | Cho, Chiharu Kodo, Kazuki Goto, Sachiko Katsumi, Yoshiki |
author_sort | Cho, Chiharu |
collection | PubMed |
description | Most balanced translocations do not involve any gain or loss of genetic material, and individuals harboring these translocations remain clinically asymptomatic. Nevertheless, balanced translocations have reportedly been associated with several diseases. Here, we present the case of a 12-year-old boy with type 2 diabetes mellitus that could not be explained only by obesity; the patient harbored a balanced translocation (46,XY t(6;7)(q24;q31.2)). Interestingly, genetic analysis showed that his 10-year-old sister also carried the same translocation and shared the same symptoms. Further analyses are required to confirm whether this balanced translocation is associated with the symptoms presented in our patient and his sibling. The outcomes of our case study are expected to reveal novel loci causing diabetes and have implications for improved diagnosis and treatment. |
format | Online Article Text |
id | pubmed-8827256 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elmer Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-88272562022-02-23 A Case of Type 2 Diabetes Mellitus With t(6;7)(q24;q31.2) Balanced Translocation Cho, Chiharu Kodo, Kazuki Goto, Sachiko Katsumi, Yoshiki J Med Cases Case Report Most balanced translocations do not involve any gain or loss of genetic material, and individuals harboring these translocations remain clinically asymptomatic. Nevertheless, balanced translocations have reportedly been associated with several diseases. Here, we present the case of a 12-year-old boy with type 2 diabetes mellitus that could not be explained only by obesity; the patient harbored a balanced translocation (46,XY t(6;7)(q24;q31.2)). Interestingly, genetic analysis showed that his 10-year-old sister also carried the same translocation and shared the same symptoms. Further analyses are required to confirm whether this balanced translocation is associated with the symptoms presented in our patient and his sibling. The outcomes of our case study are expected to reveal novel loci causing diabetes and have implications for improved diagnosis and treatment. Elmer Press 2022-01 2022-01-17 /pmc/articles/PMC8827256/ /pubmed/35211231 http://dx.doi.org/10.14740/jmc3843 Text en Copyright 2022, Cho et al. https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution Non-Commercial 4.0 International License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Cho, Chiharu Kodo, Kazuki Goto, Sachiko Katsumi, Yoshiki A Case of Type 2 Diabetes Mellitus With t(6;7)(q24;q31.2) Balanced Translocation |
title | A Case of Type 2 Diabetes Mellitus With t(6;7)(q24;q31.2) Balanced Translocation |
title_full | A Case of Type 2 Diabetes Mellitus With t(6;7)(q24;q31.2) Balanced Translocation |
title_fullStr | A Case of Type 2 Diabetes Mellitus With t(6;7)(q24;q31.2) Balanced Translocation |
title_full_unstemmed | A Case of Type 2 Diabetes Mellitus With t(6;7)(q24;q31.2) Balanced Translocation |
title_short | A Case of Type 2 Diabetes Mellitus With t(6;7)(q24;q31.2) Balanced Translocation |
title_sort | case of type 2 diabetes mellitus with t(6;7)(q24;q31.2) balanced translocation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8827256/ https://www.ncbi.nlm.nih.gov/pubmed/35211231 http://dx.doi.org/10.14740/jmc3843 |
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