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DiGeorge Syndrome


Risk

  • 1:4000 births with variable penetrance

Worry About

  • Cardiac anomalies

  • Immunodeficiency and poor wound healing

  • Palatal anomalies

  • Hypocalcemia

  • Seizures

  • Difficult mask/intubation

Overview

  • Chromosome deletion 22q11.2.

  • Classic triad: Conotruncal cardiac anomalies, hypoplastic thymus, and hypocalcemia.

  • Clinical phenotype varies with mild-to-severe forms of immunodeficiency.

  • Most cases are diagnosed in infancy, but Dx in adulthood is not uncommon.

Etiology

  • Heterozygous versus homozygous deletion of 22q11.2

  • Usually inherited from maternal genome

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