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Author5 Posts
  #1

What is the clinical picture in DiGeorge's?
What chromosome is responsible?

  #2

Clinical picture - T cell deficiency so prone to many infections and parathyroidism deficiency so hypocalcemia. Don't remember the chromosome involved??

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"If He takes you to it, He'll take you through it."

  #3

mnemonic

Cardiac defects
Abnormal facies
T cell deficiency
Cleft palate
Hypocalcemia

22 (chromosome)

  #4

thanx

___________________
"If He takes you to it, He'll take you through it."

  #5

Digeorge Syndrome

Remember it's a T-cell deficiency which they are prone to Tetany (due to HypOcalcemia). Associated with congenital defect (truncus arteriosus). Risk of viral/fungal/protozoan infection, esp w/PCP (just like HIV)

Deletion of 22q11

embryology
- thymus (3rd pouch-dorsal wings)
- parathyroid (3rd + 4th)

both failed to develop

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