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 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. Copyright 2022, Cho et al.

Citation

Chiharu Cho, Kazuki Kodo, Sachiko Goto, Yoshiki Katsumi. A Case of Type 2 Diabetes Mellitus With t(6;7)(q24;q31.2) Balanced Translocation. Journal of medical cases. 2022 Jan;13(1):21-25

PMID: 35211231

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