ArticleJournal of medical cases2022
A Case of Type 2 Diabetes Mellitus With t(6;7)(q24;q31.2) Balanced Translocation.
Article in Journal of medical cases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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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