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Phenotypic variations on the theme of CNVs

Copy number variation has emerged as an important type of genetic risk factor for developmental disorders, including the neurodevelopmental disorders schizophrenia, autism and mental retardation. The highly pleiotropic effects observed for specific copy number variants (CNVs) challenge current classification of these disorders, but also provide opportunities to understand their origins and the relationships between them.

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Figure 1: Possible relationships between various neurodevelopmental and psychiatric syndromes and a CNV (or any risk factor).


  1. Sebat, J. et al. Science 305, 525–528 (2004).

    Article  CAS  Google Scholar 

  2. Redon, R. et al. Nature 444, 444–454 (2006).

    Article  CAS  Google Scholar 

  3. McCarroll, S.A. et al. Nat. Genet. 40, 1166–1174 (2008).

    Article  CAS  Google Scholar 

  4. Brunetti-Pierri, N. et al. Nat. Genet. 40, 1466–1471 (2008).

    Article  CAS  Google Scholar 

  5. Mefford, H.C. et al. N. Engl. J. Med. 359, 1685–1699 (2008).

    Article  CAS  Google Scholar 

  6. International Schizophrenia Consortium. Nature 455, 237–241 (2008).

  7. Stefansson, H. et al. Nature 455, 232–236 (2008).

    Article  CAS  Google Scholar 

  8. Cannon, M., Jones, P.B. & Murray, R.M. Am. J. Psychol. 159, 1080–1092 (2002).

    Article  Google Scholar 

  9. Cook, E.H. Jr. & Scherer, S.W. Nature 455, 919–923 (2008).

    Article  CAS  Google Scholar 

  10. Kirov, G. et al. Hum. Mol. Genet. 17, 458–465 (2008).

    Article  CAS  Google Scholar 

  11. Woodberry, K.A. et al. Am. J. Psychol. 165, 579–587 (2008).

    Article  Google Scholar 

  12. Walters, J.T. & Owen, M.J. Mol. Psych. 12, 886–890 (2007).

    Article  CAS  Google Scholar 

  13. Meyer-Lindenberg, A. & Weinberger, D.R. Nat. Rev. Neurosci. 7, 818–827 (2006).

    Article  CAS  Google Scholar 

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O'Donovan, M., Kirov, G. & Owen, M. Phenotypic variations on the theme of CNVs. Nat Genet 40, 1392–1393 (2008).

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