22q11.2 deletion (DiGeorge) syndrome: a mother’s open letter

  • Antonio Baldini Molecular Biology, University Federico II, Institute of Genetics and Biophysics (IGB), National Research Council (CNR), Naples, Italy.
  • Maria Cristina Digilio | mcristina.digilio@opbg.net Medical Genetics, Bambino Gesù Pediatric Hospital, Rome, Italy.
  • Bruno Marino Pediatric Cardiology, Department of Pediatrics La Sapienza University, Rome, Italy.


Dear E.G., this is an open letter on 22q11.2 deletion syndrome (DiGeorge syndrome). You are the mother of a beautiful 3 year old child. And you are one of the most active members of Aidel22, the Italian Association of 22q deletion syndrome patients and families. We would like to hear your story and learn from you. But before that, we asked some scholars in the field to help us understand what 22q11.2 deletion syndrome is.



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DiGeorge AM. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. IV(1). White Plains, NY:March of Dimes-Birth Defects Foundation;1968:p. pp.116-21.

Baldini A. Dissecting contiguous gene defects: TBX1. Curr Opin Genet Dev 2005;15:279-84.

Digilio MC, Angioni A, De Santis M, et al. Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet 2003;63:308-13.

Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome. J Pediatr 2011 [Epub ahead of print].

Marino B, Digilio MC, Toscano A, et al. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med 2001;3:45-8.

Michielon G, Marino B, Oricchio G, et al. Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects. J Thorac Cardiovasc Surg 2009;138:565-570.e2.

Letters to the Editor
22q11.2 deletion (DiGeorge) syndrome, clinical genetics, paediatric cardiology, AIdel22.
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How to Cite
Baldini, A., Digilio, M. C., & Marino, B. (2011). 22q11.2 deletion (DiGeorge) syndrome: a mother’s open letter. Cardiogenetics, 1(1), e11. https://doi.org/10.4081/cardiogenetics.2011.e11