Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.

@article{Temple2007IsolatedIM,
  title={Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.},
  author={Isabel Karen Temple and V A Shrubb and Margaret Lever and Hilary M. S. Bullman and Deborah J G Mackay},
  journal={Journal of medical genetics},
  year={2007},
  volume={44 10},
  pages={637-40}
}
The clinical phenotypes of maternal and paternal uniparental disomy of chromosome 14 (UPD14) are attributed to dysregulation of imprinted genes. A large candidate locus exists within 14q32, under the regulation of a paternally methylated intergenic differentially methylated region (IG-DMR). We present a patient with clinical features of maternal UPD14, including growth retardation, hypotonia, scoliosis, small hands and feet, and advanced puberty, who had loss of methylation of the IG-DMR with… CONTINUE READING
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Methylation analysis of the intergenic differentially methylated region of DLK 1 - GTL 2 in human

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