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.

  • Comment
  • Published:

22q11.2 deletion — a tiny piece leading to a big picture

Nature Reviews Disease Primers volume 6, Article number: 33 (2020) Cite this article

Subjects

New discoveries are improving our understanding of 22q11.2 deletion syndrome.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

References

  1. McDonald-McGinn, D. M. et al. 22q11.2 deletion syndrome. Nat. Rev. Dis. Primers 1, 15071 (2015).

    Article  Google Scholar 

  2. Campbell, I. M. et al. What is new with 22q? An update from the 22q and You Center at the Children’s Hospital of Philadelphia. AM. J. Med. Genet. 176, 2058–2069 (2018).

    Article  CAS  Google Scholar 

  3. Barry, J. C. et al. Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. J. Clin. Immunol. 37, 476–485 (2017).

    Article  CAS  Google Scholar 

  4. Lopez-Rivera, E. et al. Genetic drivers of kidney defects in the DiGeorge syndrome. N. Engl. J. Med. 376, 742–754 (2017).

    Article  CAS  Google Scholar 

  5. Unolt, M. et al. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition. Genetics in Medicine 22, 326–335 (2019).

    Article  Google Scholar 

  6. Cleynen, I. et al. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Mol. Psychiatry https://doi.org/10.1038/s41380-020-0654-3 (2020).

Download references

Acknowledgements

The author acknowledges the support of NIH grants: U01 MH119737-01, PO1-HD070454, RO1- GM125757, UO1-MH191719, R01 MH087636-01A1, and PO1-HD070454. She thanks her longstanding collaborators, friends, and co-authors of the 2015 Primer; K. Sullivan, B. Marino, N. Philip-Sarles, A. Swillen, J. Vorstman, E. Zackai, B. Emanuel, Joris Vermeesch, B. Morrow, P. Scambler and A. Bassett — because it takes a village to care for a patient with 22q11.2DS; the patients and their families for everything that they’ve taught us — because it always begins with a patient; her writer and poet son, MJ, for his inspirational title; and her husband Michael and son Daniel for their unwavering support of everything 22q.

Author information

Authors and Affiliations

  1. Division of Human Genetics, Children’s Hospital of Philadelphia and Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA

    Donna M. McDonald-McGinn

Authors
  1. Donna M. McDonald-McGinn
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Donna M. McDonald-McGinn.

Ethics declarations

Competing interests

The author declares no competing interests.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

McDonald-McGinn, D.M. 22q11.2 deletion — a tiny piece leading to a big picture. Nat Rev Dis Primers 6, 33 (2020). https://doi.org/10.1038/s41572-020-0169-x

Download citation

  • Published:

  • DOI: https://doi.org/10.1038/s41572-020-0169-x

Search

Advanced 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