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22q11 Deletion Syndrome Summary

Description: Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.

Also Known As: 22q11 Deletion Syndromes; Deletion Syndrome, 22q11; Deletion Syndromes, 22q11; Syndrome, 22q11 Deletion; Syndromes, 22q11 Deletion

Networked: 41 relevant articles (0 outcomes, 3 trials/studies) for this Disease

Key Drugs and Agents for 22q11 Deletion Syndrome

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Immunoglobulin A (IgA) : 1 study in 2 results : IBA
  2. 3- iodo- 2- hydroxy- 6- methoxy- N- ((1- ethyl- 2- pyrrolidinyl)methyl)benzamide : 1 study in 2 results : IBA
  3. Cytokines : 1 study in 1 result : IBA
  4. Electrolytes : 1 study in 1 result : IBA
  5. Transcription Factors (Transcription Factor) : 3 results : IBA
  6. Calcium : 3 results : IBA
  7. Shprintzen VCF syndrome : 3 results : IBA
  8. MicroRNAs (MicroRNA) : 2 results : IBA
  9. Transferases : 2 results : IBA
  10. Dopamine (Intropin) : 2 results : FDA 36 Generic
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Diseases Related to 22q11 Deletion Syndrome

  1. IgA Deficiency
  2. Arthritis (Polyarthritis)
  3. Schizophrenia (Dementia Praecox)
  4. DiGeorge Syndrome (Syndrome, DiGeorge)
  5. Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
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Key Therapies for 22q11 Deletion Syndrome

Efficacy Chart >>
  1. Bone Marrow Transplantation (Transplantation, Bone Marrow) : 1 result
  2. Ligation : 1 result

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