22q11.2 deletion syndrome
| 22q11.2 deletion syndrome | |
| ICD-10 | D82.1 |
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| ICD-9 | 279.11, 758.32 |
| OMIM | 188400 |
| DiseasesDB | 3631 |
| MeSH | D004062 |
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22q11.2 deletion syndrome Microchapters |
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Differentiating 22q11.2 deletion syndrome from other Diseases |
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Diagnosis |
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22q11.2 deletion syndrome On the Web |
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Risk calculators and risk factors for 22q11.2 deletion syndrome |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Synonyms and keywords: 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
Pathophysiology
Differentiating 22q11.2 deletion syndrome from other Diseases
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
See also
This article incorporates public domain text from The U.S. National Library of Medicine
External links
Pathology: chromosome abnormalities (Q90-Q99, 758) | |
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| Autosomal trisomies | Down syndrome (21), Edwards syndrome (18), Patau syndrome (13), Trisomy 9, Warkany syndrome 2 (8), Cat eye syndrome (22), Trisomy 22, Trisomy 16 |
| Autosomal monosomies/deletions | Wolf-Hirschhorn syndrome (4), Cri du chat (5), Angelman syndrome/Prader-Willi syndrome (15), Miller-Dieker syndrome/Smith-Magenis syndrome (17), 22q11.2 deletion syndrome (22) |
| X/Y linked | Monosomy: Turner syndrome (XO) Trisomy: Triple X syndrome (XXX), Klinefelter's syndrome (XXY), XYY, Other Karyotypes: XXXX, XXYY, XXXXX, XXXXY |
| Translocations | Philadelphia chromosome, Burkitt's lymphoma |
| Other | Fragile X syndrome, Gonadal dysgenesis (Mixed gonadal dysgenesis) |
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