Reviewer: Shahidul Islam, M.D., Ph.D. (see Reviewers page)
Revised: 31 March 2013, last major update March 2009
Copyright: (c) 2003-2013, PathologyOutlines.com, Inc.
- Arrested development of third and fourth branchial pouches, causing absence of C cells, thymus and parathyroid glands and conotruncal cardiac defects (eMedicine)
- Due to del(22)(q11.22) as detected by FISH
- Also called 22q11 deletion syndrome, velo-cardio-facial syndrome
End of Thyroid gland > Congenital anomalies > DiGeorge syndrome
- An anomaly characterized by complete or partial absence of derivatives of third and fourth pharyngeal pouches, often associated with defective development of third, fourth and sixth aortic arches (Hum Pathol 1987;18:355)
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