22q11.2 deletion syndrome

Introduction
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By Joseph R Siebert PhD

22q11.2 deletion syndrome is also known as or subsumes Conotruncal-anomaly-face syndrome, DiGeorge syndrome, Sedlackova syndrome, Shprintzen syndrome, and Velocardiofacial syndrome. -ed.

DiGeorge and velocardiofacial syndrome (22q11.2 deletion syndrome) is the most common microdeletion disorder in humans and, hence, one of the most common multiple malformation syndromes, with an estimated prevalence of 1 in 2000 to 1 in 4000. It is characterized by craniofacial anomalies, conotruncal heart disease, thymic aplasia and hypoplasia, hypocalcemia, and psychiatric illness. In this article, the author reviews the history, clinical features, and genetic basis of this common disorder.

Key Points

  • DiGeorge and velocardiofacial syndrome (22q11.2 deletion syndrome) is the most common microdeletion disorder in humans and, hence, one of the most common multiple malformation syndromes, with an estimated prevalence of 1 in 2000 to 4000.
  • It is characterized by craniofacial anomalies, conotruncal heart disease, thymic aplasia or hypoplasia, hypocalcemia, and psychiatric illness.

In This Article

Introduction
Historical note and nomenclature
Clinical manifestations
Clinical vignette
Etiology
Pathogenesis and pathophysiology
Epidemiology
Differential diagnosis
Diagnostic workup
Prognosis and complications
Management
Pregnancy
References cited
Contributors