22q11.2 deletion syndrome

Donna M. McDonald-McGinn, Kathleen E. Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob A.S. Vorstman, Elaine H. Zackai, Beverly S. Emanuel, Joris R. Vermeesch, Bernice E. Morrow, Peter J. Scambler, Anne S. Bassett

Research output: Contribution to journalArticle

204 Citations (Scopus)

Abstract

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness - all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population.

Original languageEnglish (US)
Article number15071
JournalNature Reviews Disease Primers
Volume1
DOIs
StatePublished - Nov 19 2015

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DiGeorge Syndrome
Psychiatry
Language
Chromosome Disorders
Behavioral Genetics
Hypoparathyroidism
Occupational Therapy
Genetic Counseling
Genetic Testing
Genetic Recombination
Autoimmune Diseases
Early Diagnosis
Heart Diseases
Fetus
Medicine
Pediatrics
Psychology
Phenotype
Kidney
Population

ASJC Scopus subject areas

  • Medicine(all)

Cite this

McDonald-McGinn, D. M., Sullivan, K. E., Marino, B., Philip, N., Swillen, A., Vorstman, J. A. S., ... Bassett, A. S. (2015). 22q11.2 deletion syndrome. Nature Reviews Disease Primers, 1, [15071]. https://doi.org/10.1038/nrdp.2015.71

22q11.2 deletion syndrome. / McDonald-McGinn, Donna M.; Sullivan, Kathleen E.; Marino, Bruno; Philip, Nicole; Swillen, Ann; Vorstman, Jacob A.S.; Zackai, Elaine H.; Emanuel, Beverly S.; Vermeesch, Joris R.; Morrow, Bernice E.; Scambler, Peter J.; Bassett, Anne S.

In: Nature Reviews Disease Primers, Vol. 1, 15071, 19.11.2015.

Research output: Contribution to journalArticle

McDonald-McGinn, DM, Sullivan, KE, Marino, B, Philip, N, Swillen, A, Vorstman, JAS, Zackai, EH, Emanuel, BS, Vermeesch, JR, Morrow, BE, Scambler, PJ & Bassett, AS 2015, '22q11.2 deletion syndrome', Nature Reviews Disease Primers, vol. 1, 15071. https://doi.org/10.1038/nrdp.2015.71
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JAS et al. 22q11.2 deletion syndrome. Nature Reviews Disease Primers. 2015 Nov 19;1. 15071. https://doi.org/10.1038/nrdp.2015.71
McDonald-McGinn, Donna M. ; Sullivan, Kathleen E. ; Marino, Bruno ; Philip, Nicole ; Swillen, Ann ; Vorstman, Jacob A.S. ; Zackai, Elaine H. ; Emanuel, Beverly S. ; Vermeesch, Joris R. ; Morrow, Bernice E. ; Scambler, Peter J. ; Bassett, Anne S. / 22q11.2 deletion syndrome. In: Nature Reviews Disease Primers. 2015 ; Vol. 1.
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