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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...

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Autores principales: Cho, Chiharu, Kodo, Kazuki, Goto, Sachiko, Katsumi, Yoshiki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elmer Press 2022
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.
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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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