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22q11 Deletion Syndrome
Brian L. Shaffer, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Velocardiofacial syndrome (VCFS)
              • DiGeorge syndrome (DGS)
              • Conotruncal anomaly face syndrome (CTAF)
              • Shprintzen syndrome
              • Autosomal dominant Opitz G/BBB syndrome
              • Sedlackova syndrome
              • Cayler cardiofacial syndrome
            • Definitions

              • Highly variable microdeletion syndrome with congenital heart, palate, immune, and cognitive defects due to deletion of 22q11.2
                • Classic triad: Conotruncal congenital heart, hypoplastic thymus, and hypocalcemia
                • One of 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

                              1. Seselgyte R et al: Velopharyngeal incompetence in children with 22q11.2 deletion syndrome: velar and pharyngeal dimensions. J Craniofac Surg. 32(2):578-80, 2021
                              2. Grati FR et al: Noninvasive screening by cell-free DNA for 22q11.2 deletion: benefits, limitations, and challenges. Prenat Diagn. 39(2):70-80, 2019
                              3. Morrow BE et al: Molecular genetics of 22q11.2 deletion syndrome. Am J Med Genet A. 176(10):2070-81, 2018
                              4. Schindewolf E et al: Expanding the fetal phenotype: prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome. Am J Med Genet A. 176(8):1735-41, 2018
                              5. Ho YK et al: Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern. J Ultrasound Med. 36(8):1657-68, 2017
                              6. Unolt M et al: Congenital diaphragmatic hernia in 22q11.2 deletion syndrome. Am J Med Genet A. 173(1):135-42, 2017
                              7. 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
                              8. Merico D et al: Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome. G3 (Bethesda). ePub, 2015
                              9. 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
                              10. Tang KL et al: Behavioral and psychiatric phenotypes in 22q11.2 deletion syndrome. J Dev Behav Pediatr. 36(8):639-50, 2015
                              11. 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
                              12. 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
                              13. 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
                              14. 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
                              15. 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
                              16. Jacobson C et al: Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion. J Intellect Disabil Res. 54(8):701-13, 2010
                              17. Karayiorgou M et al: 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat Rev Neurosci. 11(6):402-16, 2010
                              18. Tan TY et al: Developmental perspectives on copy number abnormalities of the 22q11.2 region. Clin Genet. 78(3):201-18, 2010
                              19. 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
                              20. 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
                              21. McDonald-McGinn DM et al: 22q11.2 deletion syndrome. In GeneReviews. Published September 23, 1999. Updated February 27, 2020. https://www.ncbi.nlm.nih.gov/books/NBK1523/
                              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 (VCFS)
                                          • DiGeorge syndrome (DGS)
                                          • Conotruncal anomaly face syndrome (CTAF)
                                          • Shprintzen syndrome
                                          • Autosomal dominant Opitz G/BBB syndrome
                                          • Sedlackova syndrome
                                          • Cayler cardiofacial syndrome
                                        • Definitions

                                          • Highly variable microdeletion syndrome with congenital heart, palate, immune, and cognitive defects due to deletion of 22q11.2
                                            • Classic triad: Conotruncal congenital heart, hypoplastic thymus, and hypocalcemia
                                            • One of 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

                                                          1. Seselgyte R et al: Velopharyngeal incompetence in children with 22q11.2 deletion syndrome: velar and pharyngeal dimensions. J Craniofac Surg. 32(2):578-80, 2021
                                                          2. Grati FR et al: Noninvasive screening by cell-free DNA for 22q11.2 deletion: benefits, limitations, and challenges. Prenat Diagn. 39(2):70-80, 2019
                                                          3. Morrow BE et al: Molecular genetics of 22q11.2 deletion syndrome. Am J Med Genet A. 176(10):2070-81, 2018
                                                          4. Schindewolf E et al: Expanding the fetal phenotype: prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome. Am J Med Genet A. 176(8):1735-41, 2018
                                                          5. Ho YK et al: Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern. J Ultrasound Med. 36(8):1657-68, 2017
                                                          6. Unolt M et al: Congenital diaphragmatic hernia in 22q11.2 deletion syndrome. Am J Med Genet A. 173(1):135-42, 2017
                                                          7. 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
                                                          8. Merico D et al: Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome. G3 (Bethesda). ePub, 2015
                                                          9. 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
                                                          10. Tang KL et al: Behavioral and psychiatric phenotypes in 22q11.2 deletion syndrome. J Dev Behav Pediatr. 36(8):639-50, 2015
                                                          11. 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
                                                          12. 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
                                                          13. 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
                                                          14. 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
                                                          15. 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
                                                          16. Jacobson C et al: Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion. J Intellect Disabil Res. 54(8):701-13, 2010
                                                          17. Karayiorgou M et al: 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat Rev Neurosci. 11(6):402-16, 2010
                                                          18. Tan TY et al: Developmental perspectives on copy number abnormalities of the 22q11.2 region. Clin Genet. 78(3):201-18, 2010
                                                          19. 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
                                                          20. 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
                                                          21. McDonald-McGinn DM et al: 22q11.2 deletion syndrome. In GeneReviews. Published September 23, 1999. Updated February 27, 2020. https://www.ncbi.nlm.nih.gov/books/NBK1523/