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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
Velocardiofacial syndrome
DiGeorge syndrome
del22q11.2
Shprintzen syndrome
Definitions
Syndrome of congenital heart and palatal defects caused by microdeletion of 22q11.2
1 of the most recognizable chromosome abnormalities causing heart defects
Most common survivable human genetic deletion disorder
IMAGING
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Gross SJ et al: Clinical experience with single-nucleotide polymorphism-based noninvasive prenatal screening for 22q11.2 deletion syndrome. Ultrasound Obstet Gynecol. 47(2): 177-83, 2015
Merico D et al: Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome. G3 (Bethesda). ePub, 2015
Perolo A et al: The risk of 22q11.2 deletion in foetuses with a right aortic arch and without intracardiac anomalies. Ultrasound Obstet Gynecol. ePub, 2015
Tang KL et al: Behavioral and psychiatric phenotypes in 22q11.2 deletion syndrome. J Dev Behav Pediatr. 36(8):639-50, 2015
Yaron Y et al: Current Status of Testing for Microdeletion Syndromes and Rare Autosomal Trisomies Using Cell-Free DNA Technology. Obstet Gynecol. 126(5):1095-1099, 2015
Drew LJ et al: The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders. Int J Dev Neurosci. 29(3):259-81, 2011
Gothelf D et al: Developmental changes in multivariate neuroanatomical patterns that predict risk for psychosis in 22q11.2 deletion syndrome. J Psychiatr Res. 45(3):322-31, 2011
Meechan DW et al: Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes. Int J Dev Neurosci. 29(3):283-94, 2011
Bellucco FT et al: Investigating 22q11.2 deletion and other chromosomal aberrations in fetuses with heart defects detected by prenatal echocardiography. Pediatr Cardiol. 31(8):1146-50, 2010
Jacobson C et al: Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion. J Intellect Disabil Res. 54(8):701-13, 2010
Karayiorgou M et al: 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat Rev Neurosci. 11(6):402-16, 2010
Tan TY et al: Developmental perspectives on copy number abnormalities of the 22q11.2 region. Clin Genet. 78(3):201-18, 2010
Tomita-Mitchell A et al: Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease. Physiol Genomics. 42A(1):52-60, 2010
van Engelen K et al: 22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia. Heart. 96(8):621-4, 2010
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Synonyms
Velocardiofacial syndrome
DiGeorge syndrome
del22q11.2
Shprintzen syndrome
Definitions
Syndrome of congenital heart and palatal defects caused by microdeletion of 22q11.2
1 of the most recognizable chromosome abnormalities causing heart defects
Most common survivable human genetic deletion disorder
IMAGING
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Gross SJ et al: Clinical experience with single-nucleotide polymorphism-based noninvasive prenatal screening for 22q11.2 deletion syndrome. Ultrasound Obstet Gynecol. 47(2): 177-83, 2015
Merico D et al: Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome. G3 (Bethesda). ePub, 2015
Perolo A et al: The risk of 22q11.2 deletion in foetuses with a right aortic arch and without intracardiac anomalies. Ultrasound Obstet Gynecol. ePub, 2015
Tang KL et al: Behavioral and psychiatric phenotypes in 22q11.2 deletion syndrome. J Dev Behav Pediatr. 36(8):639-50, 2015
Yaron Y et al: Current Status of Testing for Microdeletion Syndromes and Rare Autosomal Trisomies Using Cell-Free DNA Technology. Obstet Gynecol. 126(5):1095-1099, 2015
Drew LJ et al: The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders. Int J Dev Neurosci. 29(3):259-81, 2011
Gothelf D et al: Developmental changes in multivariate neuroanatomical patterns that predict risk for psychosis in 22q11.2 deletion syndrome. J Psychiatr Res. 45(3):322-31, 2011
Meechan DW et al: Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes. Int J Dev Neurosci. 29(3):283-94, 2011
Bellucco FT et al: Investigating 22q11.2 deletion and other chromosomal aberrations in fetuses with heart defects detected by prenatal echocardiography. Pediatr Cardiol. 31(8):1146-50, 2010
Jacobson C et al: Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion. J Intellect Disabil Res. 54(8):701-13, 2010
Karayiorgou M et al: 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat Rev Neurosci. 11(6):402-16, 2010
Tan TY et al: Developmental perspectives on copy number abnormalities of the 22q11.2 region. Clin Genet. 78(3):201-18, 2010
Tomita-Mitchell A et al: Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease. Physiol Genomics. 42A(1):52-60, 2010
van Engelen K et al: 22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia. Heart. 96(8):621-4, 2010
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