A Japanese patient with a 2p25.3 terminal deletion presented with early-onset obesity, intellectual disability and diabetes mellitus: A case report.

Abstract excerpt

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...

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