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dc.contributor.authorGore, R.H.
dc.contributor.authorNikita, M.E.
dc.contributor.authorNewton, P.G.
dc.contributor.authorCarter, R.G.
dc.contributor.authorReyes-Bautista, J.
dc.contributor.authorGreene, C.L.
dc.date.accessioned2021-02-08T20:13:36Z
dc.date.available2021-02-08T20:13:36Z
dc.date.issued2020-04-27
dc.identifier.urihttp://hdl.handle.net/10713/14593
dc.description.abstractChromosome 6q24-related transient neonatal diabetes mellitus is characterized by intrauterine growth restriction and low birth weight, with neonatal hyperglycemia resolving by 18 months and an increased risk for type 2 diabetes in adulthood. Molecularly, it is caused by overexpression of the 6q24 imprinted chromosomal region due to a duplication, uniparental disomy, or abnormal methylation. Conventional testing for this condition analyzes methylation patterns at the 6q24 locus but does not evaluate for the presence of other surrounding chromosomal abnormalities. We report a female with a history of neonatal hyperglycemia due to a paternally inherited duplication at chromosomal location 6q24. She subsequently presented to the pediatric genetics clinic at 15 months of age with developmental delay and abnormal balance. Microarray analysis identified a larger 14 Mb chromosomal duplication from 6q24 to 6q25.2, consistent with a diagnosis of duplication 6q syndrome. This case highlights the clinical importance of pursuing further genetic evaluation in patients diagnosed with chromosome 6q24-related neonatal hyperglycemia via targeted methylation-specific multiplex ligation-dependent probe amplification analysis identifying a duplication in this region. Early identification and intervention can improve developmental outcomes for patients with larger chromosome 6q duplications. Copyright Endocrine Society 2020. This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (http://creativecommons.org/ licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited.en_US
dc.description.urihttps://doi.org/10.1210/jendso/bvaa027en_US
dc.language.isoen_USen_US
dc.publisherEndocrine Societyen_US
dc.relation.ispartofJournal of the Endocrine Society
dc.subjectChromosome abnormalityen_US
dc.subjectDuplication 6q24en_US
dc.subjectGenetic testingen_US
dc.subjectTransient neonatal diabetesen_US
dc.titleDuplication 6q24: More than just diabetesen_US
dc.typeArticleen_US
dc.identifier.doi10.1210/jendso/bvaa027


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