Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

@article{Nowakowska2012ParentalIB,
  title={Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies},
  author={Beata Anna Nowakowska and Nicole de Leeuw and Claudia A. L. Ruivenkamp and Birgit Sikkema-Raddatz and John Anthony Crolla and Reinhilde Thoelen and Marije Koopmans and Nicolette S. den Hollander and Arie van Haeringen and Anne-Marie van der Kevie-Kersemaekers and Rolph Pfundt and Hanneke Mieloo and T. H. van Essen and Bert B. A. de Vries and Andrew Green and Willie Reardon and J E Fryns and Joris Robert Vermeesch},
  journal={European Journal of Human Genetics},
  year={2012},
  volume={20},
  pages={166-170}
}
In several laboratories, genome-wide array analysis has been implemented as the first tier diagnostic test for the identification of copy number changes in patients with mental retardation and/or congenital anomalies. The identification of a pathogenic copy number variant (CNV) is not only important to make a proper diagnosis but also to enable the accurate estimation of the recurrence risk to family members. Upon the identification of a de novo interstitial loss or gain, the risk recurrence is… CONTINUE READING
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