22q11.2 deletion syndrome: Difference between revisions

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{{22q11.2 deletion syndrome}}
{{22q11.2 deletion syndrome}}


{{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}}
{{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}} {{Ajane}}


{{SK}} Velocardiofacial syndrome; Di George syndrome; Strong syndrome; third and fourth pharyngeal arch syndrome of Di George; CATCH phenotype; conotruncal anomaly face syndrome
{{SK}} DiGeorge syndrome; Velocardiofacial syndrome; Di George syndrome; Strong syndrome; third and fourth pharyngeal arch syndrome of Di George; CATCH phenotype; conotruncal anomaly face syndrome


==[[22q11.2 deletion syndrome overview|Overview]]==
==[[22q11.2 deletion syndrome overview|Overview]]==


==[[22q11.2 deletion syndrome historical perspective|Historical Perspective]]==
==[[22q11.2 deletion syndrome historical perspective|Historical Perspective]]==
==[[22q11.2 deletion syndrome classification|Classification]]==


==[[22q11.2 deletion syndrome pathophysiology|Pathophysiology]]==
==[[22q11.2 deletion syndrome pathophysiology|Pathophysiology]]==


==[[22q11.2 deletion syndrome differential diagnosis|Differentiating 22q11.2 deletion syndrome from other Diseases]]==
==[[22q11.2 deletion syndrome differential diagnosis|Differentiating 22q11.2 deletion syndrome from other Diseases]]==
==[[22q11.2 deletion syndrome causes|Causes]]==


==[[22q11.2 deletion syndrome epidemiology and demographics|Epidemiology and Demographics]]==
==[[22q11.2 deletion syndrome epidemiology and demographics|Epidemiology and Demographics]]==
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==Diagnosis==
==Diagnosis==
[[22q11.2 deletion syndrome history and symptoms|History and Symptoms ]] | [[ 22q11.2 deletion syndrome physical examination|Physical Examination]] | [[22q11.2 deletion syndrome laboratory findings|Laboratory Findings]] | [[22q11.2 deletion syndrome electrocardiogram|Electrocardiogram]] | [[22q11.2 deletion syndrome chest x ray|Chest X Ray]] | [[22q11.2 deletion syndrome CT|CT ]] | [[22q11.2 deletion syndrome MRI|MRI]] | [[22q11.2 deletion syndrome echocardiography|Echocardiography]] | [[22q11.2 deletion syndrome other imaging findings|Other Imaging Findings]] | [[22q11.2 deletion syndrome other diagnostic studies|Other Diagnostic Studies]]
[[22q11.2 deletion syndrome history and symptoms|History and Symptoms ]] | [[ 22q11.2 deletion syndrome physical examination|Physical Examination]] | [[22q11.2 deletion syndrome laboratory findings|Laboratory Findings]] | [[22q11.2 deletion syndrome electrocardiogram|Electrocardiogram]] | [[22q11.2 deletion syndrome chest x ray|Chest X Ray]] | [[22q11.2 deletion syndrome CT|CT ]] | [[22q11.2 deletion syndrome MRI|MRI]] | [[22q11.2 deletion syndrome echocardiography|Echocardiography]] | [[22q11.2 deletion syndrome other imaging findings|Other Imaging Findings]] | [[22q11.2 deletion syndrome other diagnostic studies|Other Diagnostic Studies]]


==Treatment==
==Treatment==
[[22q11.2 deletion syndrome medical therapy|Medical Therapy]] | [[22q11.2 deletion syndrome surgery |Surgery]] | [[22q11.2 deletion syndrome primary prevention|Primary Prevention]] | [[22q11.2 deletion syndrome secondary prevention|Secondary Prevention]] | [[22q11.2 deletion syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[22q11.2 deletion syndrome future or investigational therapies|Future or Investigational Therapies]]
[[22q11.2 deletion syndrome medical therapy|Medical Therapy]] | [[22q11.2 deletion syndrome surgery |Surgery]] | [[22q11.2 deletion syndrome primary prevention|Primary Prevention]] | [[22q11.2 deletion syndrome secondary prevention|Secondary Prevention]] | [[22q11.2 deletion syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[22q11.2 deletion syndrome future or investigational therapies|Future or Investigational Therapies]]
== See also ==
* [[Asymmetric crying facies]]
''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine]''
==External links==
* [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.150 NIH]
{{Immune disorders}}
{{Chromosomal abnormalities}}
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[[Category:Genetic disorders]]
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Latest revision as of 23:02, 27 August 2020

22q11.2 deletion syndrome
ICD-10 D82.1
ICD-9 279.11, 758.32
OMIM 188400
DiseasesDB 3631
MeSH D004062

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2] Ayushi Jain, M.B.B.S[3]

Synonyms and keywords: DiGeorge syndrome; Velocardiofacial syndrome; Di George syndrome; Strong syndrome; third and fourth pharyngeal arch syndrome of Di George; CATCH phenotype; conotruncal anomaly face syndrome

Overview

Historical Perspective

Classification

Pathophysiology

Differentiating 22q11.2 deletion syndrome from other Diseases

Causes

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Chest X Ray | CT | MRI | Echocardiography | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies