DiGeorge syndrome

7 Interesting Facts of DiGeorge syndrome 

  1. Congenital syndrome characterized by developmental defects in the thymus, parathyroids, and great vessels (fourth branchial arch, third and fourth branchial pouch development)
  2. Intellectual disability and dysmorphic facies are features of both Williams and DiGeorge syndromes
  3. Distinguishing features of DiGeorge syndrome include hypoparathyroidism, frequent cleft lip/palate, craniofacial defects, hypocalcemia, and immunodeficiency
  4. Differentiated from Williams syndrome by detection of the genetic deletion at 22q11 by fluorescence in situ hybridization

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