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DiGeorge (22q11.2 deletion) syndrome: Clinical features and diagnosis

Christine M Seroogy, MD
Section Editor
E Richard Stiehm, MD
Deputy Editor
Elizabeth TePas, MD, MS


DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system. Most cases are caused by a heterozygous chromosomal deletion at 22q11.2. Chromosome 22q11.2 deletion syndrome (22qDS) includes DGS and other similar syndromes, such as velocardiofacial syndrome. The classic triad of features of DGS on presentation is conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia (resulting from parathyroid hypoplasia).

Thymic hypoplasia in DGS results in a range of T-cell deficits. Most patients with DGS have mild defects in T-cell numbers and are not clinically immunodeficient. Approximately 1 percent, however, have a complete absence of thymic tissue and profound immunodeficiency. This form of DGS, called complete DGS, is a type of severe combined immunodeficiency (SCID) and is life threatening if not corrected with immune reconstitution.

This topic reviews the clinical features and diagnosis of DGS. The epidemiology, pathogenesis, management, and prognosis of patients with DGS are presented separately. (See "DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogenesis" and "DiGeorge (22q11.2 deletion) syndrome: Management and prognosis".)


The classic triad of features of DGS on presentation is conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia [1]. However, the phenotype is quite variable (table 1), and there may be marked differences within a single family [2-7]. Older children with DGS may be detected through clinics for congenital heart defects or craniofacial clinics.

Cardiac anomalies — Conotruncal cardiac defects occur in approximately 80 percent of DGS patients and, when present, are typically the initial abnormalities noted [2,3,5]. The term "conotruncal" refers to the distal portion of the fetal heart (trunco-aortic sac) at an early stage in development. The aortic and pulmonary roots subsequently develop from this area, and defects in these structures are referred to as conotruncal defects.


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Literature review current through: Sep 2016. | This topic last updated: Apr 29, 2015.
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