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22q11 Deletion Syndrome

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)

Disease Context: Research Results

Related Diseases

1. IgA Deficiency
2. Arthritis (Polyarthritis)
3. Schizophrenia (Dementia Praecox)
4. DiGeorge Syndrome (Syndrome, DiGeorge)
5. Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)

Experts

1. Boot, Erik: 5 articles (09/2015 - 01/2011)
2. van Amelsvoort, Thérèse A M J: 2 articles (09/2015 - 12/2012)
3. Abel, Kathryn M: 2 articles (09/2015 - 12/2012)
4. Bloemen, Oswald J N: 2 articles (09/2015 - 12/2012)
5. de Koning, Mariken B: 2 articles (09/2015 - 12/2012)
6. van Duin, Esther D A: 2 articles (09/2015 - 12/2012)
7. Oskarsdóttir, Sólveig: 2 articles (05/2014 - 04/2007)
8. Illingworth, Elizabeth: 2 articles (10/2013 - 11/2010)
9. Linszen, Don H: 2 articles (12/2012 - 09/2011)
10. de Haan, Lieuwe: 2 articles (12/2012 - 01/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 22q11 Deletion Syndrome:
1. Immunoglobulin A (IgA)IBA
2. 3- iodo- 2- hydroxy- 6- methoxy- N- ((1- ethyl- 2- pyrrolidinyl)methyl)benzamideIBA
3. CytokinesIBA
4. ElectrolytesIBA
5. Transcription Factors (Transcription Factor)IBA
6. CalciumIBA
7. Shprintzen VCF syndromeIBA
8. MicroRNAs (MicroRNA)IBA
9. TransferasesIBA
10. Dopamine (Intropin)FDA LinkGeneric

Therapies and Procedures

1. Bone Marrow Transplantation (Transplantation, Bone Marrow)
2. Ligation