Transient Neonatal Diabetes Mellitus in an Infant with Paternal Uniparental Disomy of Chromosome 6 Including Heterodisomy for 6q24
- 1 January 2006
- journal article
- case report
- Published by Walter de Gruyter GmbH in Journal of Pediatric Endocrinology and Metabolism
- Vol. 19 (11) , 1353-1358
- https://doi.org/10.1515/jpem.2006.19.11.1353
Abstract
We describe a female infant who developed transient neonatal diabetes mellitus (TNDM) (MIM 601410). At birth she presented with growth retardation and macroglossia. Diabetes was diagnosed on the fourth day of life and it resolved after two months of insulin therapy. Genetic testing revealed the presence of paternal uniparental disomy of chromosome 6 (UPD6) including heterodisomy of 6q24. This is the first documented case of uniparental heterodisomy for chromosome 6.Keywords
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