Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.

@article{Buiting2008ClinicalFO,
  title={Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.},
  author={Karin Buiting and Deniz Kanber and Jos{\'e} Ignacio Mart{\'i}n-Subero and Wolfgang Lieb and Paulien Anna Terhal and Beate Albrecht and Sabine Purmann and Stephanie R Gross and Christina Lich and Reiner Siebert and Bernhard Horsthemke and G Gillessen-kaesbach},
  journal={Human mutation},
  year={2008},
  volume={29 9},
  pages={1141-6}
}
Maternal uniparental disomy 14 [upd(14)mat] is associated with a recognizable phenotype that includes pre- and postnatal growth retardation, neonatal hypotonia, feeding problems and precocious puberty. Chromosome 14 contains an imprinted gene cluster, which is regulated by a differentially methylated region (IG-DMR) between DLK1 and GTL2. Here we report on four patients with clinical features of upd(14)mat who show a maternal-only methylation pattern, but biparental inheritance for chromosome… CONTINUE READING

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