Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

@article{Bocciardi2007OverexpressionOT,
  title={Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.},
  author={Renata Bocciardi and Roberto Giorda and Jens Buttgereit and Stefania Gimelli and Maria Teresa Divizia and Silvana Beri and Silvio Garofalo and Sara Tavella and Margherita Lerone and Orsetta Zuffardi and Michael Bader and Roberto Ravazzolo and Giorgio Gimelli},
  journal={Human mutation},
  year={2007},
  volume={28 7},
  pages={724-31}
}
Longitudinal bone growth is determined by the process of endochondral ossification in the cartilaginous growth plate, which is located at both ends of vertebrae and long bones and involves many systemic hormones and local regulators. We report the molecular characterization of a de novo balanced t(2;7)(q37.1;q21.3) translocation in a young female with Marfanoid habitus and skeletal anomalies. The translocation was characterized by fluorescence in situ hybridization (FISH), checked for other… CONTINUE READING

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