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Understanding variable expressivity in microdeletion syndromes

A new study reports an elevated frequency of second-site genomic alterations among children with severe developmental delay who carry a recurrent microdeletion at chromosome 16p12.1. The work highlights the complex relationship between genotype and phenotype and provides a model to explain the clinical variability associated with this and other common microdeletion syndromes.

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Figure 1: Models to explain the variable expressivity of the 16p12.1 deletion.


  1. 1

    De Vries, B.B.A. et al. Am. J. Hum. Genet. 77, 606–616 (2005).

    CAS  Article  Google Scholar 

  2. 2

    O'Donovan, M.C. et al. Nat. Genet. 40, 1392–1393 (2008).

    CAS  Article  Google Scholar 

  3. 3

    Girirajan, S. et al. Nat. Genet. 42, 203–209 (2010).

    CAS  Article  Google Scholar 

  4. 4

    Klopocki, E. et al. Am. J. Hum. Genet. 80, 232–240 (2007).

    CAS  Article  Google Scholar 

  5. 5

    Oti, M. & Brunner, H.G. Clin. Genet. 71, 1–11 (2007).

    CAS  Article  Google Scholar 

  6. 6

    Philips, P.C. Nat. Rev. Genet. 9, 855–867 (2008).

    Article  Google Scholar 

  7. 7

    Nadif Kasri, N. & Van Aelst, L. Pflugers Arch. 455, 787–797 (2008).

    CAS  Article  Google Scholar 

  8. 8

    Kajiwara, K., Berson, E.L. & Dryja, T.P. Science 264, 1604–1608 (2004).

    Article  Google Scholar 

  9. 9

    Khanna, H. et al. Nat. Genet. 41, 739–745 (2009).

    CAS  Article  Google Scholar 

  10. 10

    De Pontual, L. et al. Proc. Natl. Acad. Sci. USA 106, 13921–13926 (2009).

    CAS  Article  Google Scholar 

  11. 11

    Louie, C.M. et al. Nat. Genet. 42, 175–180 (2010).

    CAS  Article  Google Scholar 

  12. 12

    Jones, S. et al. Science 321, 1801–1806 (2008).

    CAS  Article  Google Scholar 

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Correspondence to Han G Brunner.

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The authors declare no competing financial interests.

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Veltman, J., Brunner, H. Understanding variable expressivity in microdeletion syndromes. Nat Genet 42, 192–193 (2010).

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