Highlights & Basics
- Typically results from a deletion in chromosome 22, which disrupts the development of the pharyngeal arches and pouches, and may also cause neurologic, immunologic, endocrinologic, or cognitive deficits.
- Classic presentation is a triad of cardiac anomalies, hypoplastic thymus, and hypocalcemia, but clinical manifestations are highly variable, ranging from mild learning disabilities to the complete spectrum of congenital malformations. This phenotypic variability occurs despite a highly consistent genetic lesion.
- Presenting signs and symptoms depend on age at diagnosis and the organ system affected. Knowledge of the particular characteristics for a given age helps guide follow-up and management.
- Treatment modalities depend on clinical manifestations present in the individual patient. Management is symptomatic and generally follows typical practice for patients without the syndrome, for any given feature.
Quick Reference
History & Exam
Key Factors
Other Factors
Diagnostics Tests
Treatment Options
Definition
Epidemiology
Etiology
Pathophysiology
Citations
European Society for Immunodeficiencies. Clinical Working Party diagnostic criteria for PID: DiGeorge syndrome diagnostic criteria [internet publication].[Full Text]
Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112:101-107.[Abstract]
Land MH, Garcia-Lloret MI, Borzy MS, et al. Long-term results of bone marrow transplantation in complete DiGeorge syndrome. J Allergy Clin Immunol. 2007;120:908-915.[Abstract]
Baumer A, Riegel M, Schinzel A. Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion. J Med Genet. 2004;41:413-420.[Abstract][Full Text]
Taddei I, Morishima M, Huynh T, et al. Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes. Proc Natl Acad Sci U S A. 2001;98:11428-11431.[Abstract][Full Text]
Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997;34:798-804.[Abstract][Full Text]
Piliero LM, Sanford AN, McDonald-McGinn DM, et al. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood. 2004;103:1020-1025.[Abstract][Full Text]
Markert ML, Boeck A, Hale LP, et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med. 1999;341:1180-1189.[Abstract][Full Text]
1. European Society for Immunodeficiencies. Clinical Working Party diagnostic criteria for PID: DiGeorge syndrome diagnostic criteria [internet publication].[Full Text]
2. Knutsen AP, Baker MW, Markert ML. Interpreting low T-cell receptor excision circles in newborns with DiGeorge anomaly: importance of assessing naive T-cell markers. J Allergy Clin Immunol. 2011;128:1375-1376.[Abstract]
3. Markert ML, Alexieff MJ, Li J, et al. Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. J Allergy Clin Immunol. 2004;113:734-741.[Abstract]
4. Björk AH, Oskarsdóttir S, Andersson BA, et al. Antibody deficiency in adults with 22q11.2 deletion syndrome. Am J Med Genet A. 2012;158A:1934-1940.[Abstract]
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8. Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112:101-107.[Abstract]
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10. Land MH, Garcia-Lloret MI, Borzy MS, et al. Long-term results of bone marrow transplantation in complete DiGeorge syndrome. J Allergy Clin Immunol. 2007;120:908-915.[Abstract]
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26. Taddei I, Morishima M, Huynh T, et al. Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes. Proc Natl Acad Sci U S A. 2001;98:11428-11431.[Abstract][Full Text]
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53. Zori RT, Boyar FZ, Williams NW, et al. Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency. Am J Med Genet. 1998;77:8-11.[Abstract]
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60. Piliero LM, Sanford AN, McDonald-McGinn DM, et al. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood. 2004;103:1020-1025.[Abstract][Full Text]
61. Chaoui R, Heling KS, Lopez AS, et al. The thymic-thoracic ratio in fetal heart defects: a simple way to identify fetuses at high risk for microdeletion 22q11. Ultrasound Obstet Gynecol. 2011;37:397-403.[Abstract]
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67. Vermot J, Niederreither K, Garnier JM, et al. Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1763-8.[Abstract][Full Text]
68. Roberts C, Ivins SM, James CT, et al. Retinoic acid down-regulates Tbx1 expression in vivo and in vitro. Dev Dyn. 2005 Apr;232(4):928-38.[Abstract][Full Text]
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108. Al-Sukaiti N, Reid B, Lavi S, et al. Safety and efficacy of measles, mumps, and rubella vaccine in patients with DiGeorge syndrome. J Allergy Clin Immunol. 2010;126:868-869.[Abstract]
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