Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

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.

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

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

References

  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 

Download references

Author information

Affiliations

Authors

Corresponding author

Correspondence to Han G Brunner.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Veltman, J., Brunner, H. Understanding variable expressivity in microdeletion syndromes. Nat Genet 42, 192–193 (2010). https://doi.org/10.1038/ng0310-192

Download citation

Further reading

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing