Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.

@article{Das2000PartialPU,
  title={Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.},
  author={Soma Das and Christa Lese and Ming-sheng Song and Jerald L Jensen and Lloyd Allan Wells and Barry L Barnoski and Jessica A. Roseberry and Jeanette M Camacho and D. H. Ledbetter and Rhonda E. Schnur},
  journal={American journal of human genetics},
  year={2000},
  volume={67 6},
  pages={1586-91}
}
Neonatal diabetes, which can be transient or permanent, is defined as hyperglycemia that presents within the first month of life and requires insulin therapy. Transient neonatal diabetes mellitus has been associated with abnormalities of the paternally inherited copy of chromosome 6, including duplications of a portion of the long arm of chromosome 6 and uniparental disomy, implicating overexpression of an imprinted gene in this disorder. To date, all patients with transient neonatal diabetes… CONTINUE READING
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