DiGeorge syndrome

European Society for Immunodeficiencies. Clinical Working Party diagnostic criteria for PID: DiGeorge syndrome diagnostic criteria [internet publication].Full text

Boot E, Óskarsdóttir S, Loo JCY, et al. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. 2023 Mar;25(3):100344.Full text  Abstract

Óskarsdóttir S, Boot E, Crowley TB, et al. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med. 2023 Mar;25(3):100338.Full text  Abstract

Mustillo PJ, Sullivan KE, Chinn IK, et al. Clinical practice guidelines for the immunological management of chromosome 22q11.2 deletion syndrome and other defects in thymic development. J Clin Immunol. 2023 Feb;43(2):247-70.Full text  Abstract

1. McDonald-McGinn DM, Sullivan KE, Marino B, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015 Nov 19;1:15071.Full text  Abstract

2. Du Q, de la Morena MT, van Oers NSC. The genetics and epigenetics of 22q11.2 deletion syndrome. Front Genet. 2019;10:1365.Full text  Abstract

3. Cirillo A, Lioncino M, Maratea A, et al. Clinical manifestations of 22q11.2 deletion syndrome. Heart Fail Clin. 2022 Jan;18(1):155-64. Abstract

4. European Society for Immunodeficiencies. Clinical Working Party diagnostic criteria for PID: DiGeorge syndrome diagnostic criteria [internet publication].Full text

5. Knutsen AP, Baker MW, Markert ML. Interpreting low T-cell receptor excision circles in newborns with DiGeorge anomaly: importance of assessing naive T-cell markers. J Allergy Clin Immunol. 2011;128:1375-6. Abstract

6. Markert ML, Alexieff MJ, Li J, et al. Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. J Allergy Clin Immunol. 2004;113:734-741. Abstract

7. Björk AH, Oskarsdóttir S, Andersson BA, et al. Antibody deficiency in adults with 22q11.2 deletion syndrome. Am J Med Genet A. 2012;158A:1934-1940. Abstract

8. Patel K, Akhter J, Kobrynski L, et al. Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge syndrome. J Pediatr. 2012;161:950-953. Abstract

9. Leana-Cox J, Pangkanon S, Eanet KR, et al. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. Am J Med Genet. 1996;65:309-316. Abstract

10. Mok KY, Sheerin U, Simón-Sánchez J, et al. Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. Lancet Neurol. 2016;15:585-596.Full text  Abstract

11. Blagojevic C, Heung T, Theriault M, et al. Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening. CMAJ Open. 2021 Jul-Sep;9(3):E802-9.Full text  Abstract

12. Panamonta V, Wichajarn K, Chaikitpinyo A, et al. Birth prevalence of chromosome 22q11.2 deletion syndrome: a systematic review of population-based studies. J Med Assoc Thai. 2016 Aug;99 Suppl 5:S187-93. Abstract

13. Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112:101-7. Abstract

14. Munoz S, Garay F, Flores I, et al. Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome. Rev Med Chil. 2001;129:515-521. Abstract

15. Boot E, Óskarsdóttir S, Loo JCY, et al. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. 2023 Mar;25(3):100344.Full text  Abstract

16. Land MH, Garcia-Lloret MI, Borzy MS, et al. Long-term results of bone marrow transplantation in complete DiGeorge syndrome. J Allergy Clin Immunol. 2007;120:908-15. Abstract

17. Wilson DI, Cross IE, Goodship JA, et al. A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Hum Genet. 1992;51:957-63.Full text  Abstract

18. Jerome LA, Papaioannou VE. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet. 2001;27:286-291. Abstract

19. Shaikh TH, Kurahashi H, Saitta SC, et al. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet. 2000;9:489-501.Full text  Abstract

20. Baumer A, Riegel M, Schinzel A. Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion. J Med Genet. 2004;41:413-20.Full text  Abstract

21. Carlson C, Sirotkin H, Pandita R, et al. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet. 1997;61:620-629.Full text  Abstract

22. Edelmann L, Pandita RK, Spiteri E, et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet. 1999;8:1157-67. Abstract

23. Yagi H, Furutani Y, Hamada H, et al. Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003;362:1366-73. Abstract

24. Daw SCM, Taylor C, Kraman M, et al. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet. 1996;13:458-60. Abstract

25. Sanka M, Tangsinmankong N, Loscalzo M, et al. Complete DiGeorge syndrome associated with CHD7 mutation. J Allergy Clin Immunol. 2007;120:952-4.Full text

26. Vitelli F, Taddei I, Morishima M, et al. A genetic link between Tbx1 and fibroblast growth factor signaling. Development. 2002;129:4605-11.Full text  Abstract

27. Lindstrand A, Malmgren H, Verri A, et al. Molecular and clinical characterization of patients with overlapping 10p deletions. Am J Med Genet A. 2010;152A:1233-43. Abstract

28. Rope AF, Cragun DL, Saal HM, et al. DiGeorge anomaly in the absence of chromosome 22q11.2 deletion. J Pediatr. 2009;155:560-5. Abstract

29. Guo T, McDonald-McGinn D, Blonska A, et al. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat. 2011;32:1278-1289. Abstract

30. Piotrowski T, Ahn D, Schilling TF, et al. The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans. Development. 2003;130:5043-5052.Full text  Abstract

31. Lindsay EA, Vitelli F, Su H, et al. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 2001;410:97-101. Abstract

32. Taddei I, Morishima M, Huynh T, et al. Genetic factors are major determinants of phenotypic variability in a mouse model of the DiGeorge/del22q11 syndromes. Proc Natl Acad Sci U S A. 2001;98:11428-31.Full text  Abstract

33. Nowotschin S, Liao J, Gage PJ, et al. Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field. Development. 2006;133:1565-1573.Full text  Abstract

34. Swaby JA, Silversides CK, Bekeschus SC, et al. Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome. Am J Cardiol. 2011;107:466-71.Full text  Abstract

35. Fénelon K, Mukai J, Xu B, et al. Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex. Proc Natl Acad Sci U S A. 2011;108:4447-4452. Abstract

36. Stalmans I, Lambrechts D, De Smet F, et al. VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med. 2003;9:173-182. Abstract

37. Gothelf D, Eliez S, Thompson T, et al. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci. 2005;8:1500-1502. Abstract

38. Glaser B, Debbane M, Hinard C, et al. No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome. Am J Psychiatry. 2006;163:537-539.Full text  Abstract

39. Tison BE, Nicholas SK, Abramson SL, et al. Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome. J Allergy Clin Immunol. 2011;128:1115-1117. Abstract

40. Digilio MC, Angioni A, De Santis M, et al. Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet. 2003;63:308-313. Abstract

41. Biggs SE, Gilchrist B, May KR. Chromosome 22q11.2 deletion (DiGeorge syndrome): immunologic features, diagnosis, and management. Curr Allergy Asthma Rep. 2023 Apr;23(4):213-22.Full text  Abstract

42. Schecklmann M, Schwenck C, Taurines R, et al. A systematic review on olfaction in child and adolescent psychiatric disorders. J Neural Transm. 2013;120:121-30. Abstract

43. Solot CB, Sell D, Mayne A, et al. Speech-language disorders in 22q11.2 deletion syndrome: best practices for diagnosis and management. Am J Speech Lang Pathol. 2019 Aug 9;28(3):984-99.Full text  Abstract

44. Biswas AB, Furniss F. Cognitive phenotype and psychiatric disorder in 22q11.2 deletion syndrome: a review. Res Dev Disabil. 2016 Jun-Jul;53-54:242-57. Abstract

45. Tarquinio DC, Jones MC, Jones KL, et al. Growth charts for 22q11 deletion syndrome. Am J Med Genet A. 2012;158A:2672-81. Abstract

46. Habel A, McGinn MJ 2nd, Zackai EH, et al. Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children. Am J Med Genet A. 2012;158A:2665-71. Abstract

47. Marino B, Digilio MC, Toscano A, et al. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med. 2001;3:45-8. Abstract

48. Unolt M, Versacci P, Anaclerio S, et al. Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: from well-established knowledge to new frontiers. Am J Med Genet A. 2018 Oct;176(10):2087-98.Full text  Abstract

49. Bayat M, Bayat A. Neurological manifestation of 22q11.2 deletion syndrome. Neurol Sci. 2022 Mar;43(3):1695-700. Abstract

50. Oskarsdottir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child. 2004;89:148-51.Full text  Abstract

51. Halder A, Jain M, Kalsi AK. SNP microarray in FISH negative clinically suspected 22q11.2 microdeletion syndrome. Scientifica (Cairo). 2016;2016:5826431.Full text  Abstract

52. Óskarsdóttir S, Boot E, Crowley TB, et al. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med. 2023 Mar;25(3):100338.Full text  Abstract

53. Corsten-Janssen N, Saitta SC, Hoefsloot LH, et al. More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated. Mol Syndromol. 2013 Jun;4(5):235-45.Full text  Abstract

54. Mustillo PJ, Sullivan KE, Chinn IK, et al. Clinical practice guidelines for the immunological management of chromosome 22q11.2 deletion syndrome and other defects in thymic development. J Clin Immunol. 2023 Feb;43(2):247-70.Full text  Abstract

55. Stewart TL, Irons MB, Cowan JM, et al. Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion. Teratology. 1999;59:20-22. Abstract

56. Lay-Son G, Palomares M, Guzman ML, et al. Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome. Int J Pediatr Otorhinolaryngol. 2012;76:1726-1728. Abstract

57. Verheij E, Kist AL, Mink van der Molen AB, et al. Otologic and audiologic findings in 22q11.2 deletion syndrome. Eur Arch Otorhinolaryngol. 2017 Feb;274(2):765-71.Full text  Abstract

58. Yi JJ, Calkins ME, Tang SX, et al. Impact of psychiatric comorbidity and cognitive deficit on function in 22q11.2 deletion syndrome. J Clin Psychiatry. 2015 Oct;76(10):e1262-70. Abstract

59. Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997;34:798-804.Full text  Abstract

60. Oskarsdottir S, Persson C, Eriksson BO, et al. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr. 2005;164:146-153. Abstract

61. Goldberg R, Motzkin B, Marion R, et al. Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet. 1993;45:313-319. Abstract

62. Zori RT, Boyar FZ, Williams NW, et al. Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency. Am J Med Genet. 1998;77:8-11. Abstract

63. D'Antonio LL, Scherer NJ, Miller LL, et al. Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS. Cleft Palate Craniofac J. 2001;38:455-467.Full text  Abstract

64. Wang PP, Woodin MF, Kreps-Falk R, et al. Research on behavioral phenotypes: velocardiofacial syndrome (deletion 22q11.2). Dev Med Child Neurol. 2000;42:422-427.Full text  Abstract

65. Bassett AS, Chow EW. 22q11 deletion syndrome: a genetic subtype of schizophrenia. Biol Psychiatry. 1999;46:882-891. Abstract

66. Arinami T, Ohtsuki T, Takase K, et al. Screening for 22q11 deletions in a schizophrenia population. Schizophr Res. 2001;52:167-170. Abstract

67. Barrett DJ, Ammann AJ, Wara DW, et al. Clinical and immunologic spectrum of the DiGeorge syndrome. J Clin Lab Immunol. 1981;6:1-6. Abstract

68. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007;370:1443-52. Abstract

69. Piliero LM, Sanford AN, McDonald-McGinn DM, et al. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood. 2004;103:1020-5.Full text  Abstract

70. Chaoui R, Heling KS, Lopez AS, et al. The thymic-thoracic ratio in fetal heart defects: a simple way to identify fetuses at high risk for microdeletion 22q11. Ultrasound Obstet Gynecol. 2011;37:397-403. Abstract

71. Lammer EJ, Chen DT, Hoar RM, et al. Retinoic acid embryopathy. N Engl J Med. 1985 Oct 3;313(14):837-41. Abstract

72. Zhang L, Zhong T, Wang Y, et al. TBX1, a DiGeorge syndrome candidate gene, is inhibited by retinoic acid. Int J Dev Biol. 2006;50(1):55-61. Abstract

73. Vermot J, Niederreither K, Garnier JM, et al. Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. Proc Natl Acad Sci U S A. 2003 Feb 18;100(4):1763-8.Full text  Abstract

74. Roberts C, Ivins SM, James CT, et al. Retinoic acid down-regulates Tbx1 expression in vivo and in vitro. Dev Dyn. 2005 Apr;232(4):928-38.Full text  Abstract

75. de Lonlay-Debeney P, Cormier-Daire V, Amiel J, et al. Features of DiGeorge syndrome and CHARGE association in five patients. J Med Genet. 1997 Dec;34(12):986-9.Full text  Abstract

76. Markert ML, Devlin BH, Alexieff MJ, et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood. 2007 May 15;109(10):4539-47.Full text  Abstract

77. Janda A, Sedlacek P, Mejstrikova E, et al. Unrelated partially matched lymphocyte infusions in a patient with complete DiGeorge/CHARGE syndrome. Pediatr Transplant. 2007 Jun;11(4):441-7. Abstract

78. Gennery AR, Slatter MA, Rice J, et al. Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. Clin Exp Immunol. 2008 Jul;153(1):75-80. Abstract

79. Theodoropoulos DS. Immune deficiency in CHARGE association. Clin Med Res. 2003 Jan;1(1):43-8.Full text  Abstract

80. Lee KD, Okazaki T, Kato Y, et al. Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review. Pediatr Surg Int. 2008 Oct;24(10):1153-6. Abstract

81. Martin-Nalda A, Cueto-González AM, Argudo-Ramírez A, et al. Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain). Mol Genet Genomic Med. 2019 Dec;7(12):e1016.Full text  Abstract

82. Liao HC, Liao CH, Kao SM, et al. Detecting 22q11.2 deletion syndrome in newborns with low T cell receptor excision circles from severe combined immunodeficiency acreening. J Pediatr. 2019 Jan;204:219-24.e1. Abstract

83. Barry JC, Crowley TB, Jyonouchi S, et al. Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. J Clin Immunol. 2017 Jul;37(5):476-85. Abstract

84. Agergaard P, Hebert A, Sørensen KM, et al. Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations? A review. Eur J Med Genet. 2011;54:3-8. Abstract

85. Tomita-Mitchell A, Mahnke DK, Larson JM, et al. Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease. Physiol Genomics. 2010;42A:52-60. Abstract

86. Bales AM, Zaleski CA, McPherson EW. Patient and family experiences and opinions on adding 22q11 deletion syndrome to the newborn screen. J Genet Couns. 2010;19:526-34. Abstract

87. Peyvandi S, Lupo PJ, Garbarini J, et al. 22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases. Pediatr Cardiol. 2013;34:1687-1694. Abstract

88. Agergaard P, Olesen C, Østergaard JR, et al. The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations: a population-based study. Am J Med Genet A. 2012;158A:498-508. Abstract

89. Monteiro FP, Vieira TP, Sgardioli IC, et al. Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature. 2013;172:927-45. Abstract

90. European Society for Immunodeficiencies. Working definitions for clinical diagnosis of PID. November 2019 [internet publication].Full text

91. Goldmuntz E. 22q11.2 deletion syndrome and congenital heart disease. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. Abstract

92. Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998:32;492-98.Full text  Abstract

93. Van Mierop LH, Kutsche LM. Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor. Am J Cardiol. 1986;58:133-7. Abstract

94. McDonald R, Dodgen A, Goyal S, et al. Impact of 22q11.2 deletion on the postoperative course of children after cardiac surgery. Pediatr Cardiol. 2013;34:341-7. Abstract

95. Rayannavar A, Levitt Katz LE, Crowley TB, et al. Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome. Am J Med Genet A. 2018 Oct;176(10):2099-103.Full text  Abstract

96. Filip C, Matzen M, Aukner R, et al. Superiorly based pharyngeal flap for treatment of velopharyngeal insufficiency in patients with 22q11.2 deletion syndrome. J Craniofac Surg. 2013;24:501-4. Abstract

97. Markert ML, Boeck A, Hale LP, et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med. 1999;341:1180-9.Full text  Abstract

98. Moylett EH, Wasan AN, Noroski LM, et al. Live viral vaccines in patients with partial DiGeorge syndrome: clinical experience and cellular immunity. Clin Immunol. 2004;112:106-112. Abstract

99. Perez EE, Bokszczanin A, McDonald-McGinn D, et al. Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Pediatrics. 2003;112:e325.Full text  Abstract

100. Chinen J, Rosenblatt HM, Smith EO, et al. Long-term assessment of T-cell populations in DiGeorge syndrome. J Allergy Clin Immunol. 2003;111:573-579. Abstract

101. Davis CM, Kancherla VS, Reddy A, et al. Development of specific T-cell responses to Candida and tetanus antigens in partial DiGeorge syndrome. J Allergy Clin Immunol. 2008;122:1194-1199. Abstract

102. Azzari C, Gamineri E, Resti M, et al. Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome). Vaccine. 2005;23:1668-1671. Abstract

103. Sullivan KE. Live viral vaccines in patients with DiGeorge syndrome. Clin Immunol. 2004;113:3. Abstract

104. Waters V, Peterson KS, LaRussa P. Live viral vaccines in a DiGeorge syndrome patient. Arch Dis Child. 2007;92:519-520. Abstract

105. Antshel KM, Fremont W, Roizen NJ, et al. ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome. J Am Acad Child Adolesc Psychiatry. 2006;45:596-603. Abstract

106. Lin CE, Hwang KS, Hsieh PH, et al. Treatment of schizophreniform disorder by aripiprazole in a female adolescent with 22q11.2 deletion syndrome. Prog Neuropsychopharmacol Biol Psychiatry. 2010;34:1141-3.

107. Bassett AS, Chow EW, Husted J, et al. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A. 2005;138A:307-13.Full text  Abstract

108. Ysunza A, Pamplona MC, Molina F, et al. Surgical planning for restoring velopharyngeal function in velocardiofacial syndrome. Int J Pediatr Otorhinolaryngol. 2009;73:1572-5. Abstract

109. Spruijt NE, Reijmanhinze J, Hens G, et al. In search of the optimal surgical treatment for velopharyngeal dysfunction in 22q11.2 deletion syndrome: a systematic review. PLoS ONE. 2012;7:e34332.Full text  Abstract

110. Davies EG, Cheung M, Gilmour K, et al. Thymus transplantation for complete DiGeorge syndrome: European experience. J Allergy Clin Immunol. 2017 Dec;140(6):1660-1670.e16.Full text  Abstract

111. Braskett M, Roberts R. Evaluation and treatment of children with primary immune deficiency in the emergency department. Clin Pediatr Emerg Med. 2007;8:96-103.

112. Butcher NJ, Chow EW, Costain G, et al. Functional outcomes of adults with 22q11.2 deletion syndrome. Genet Med. 2012;14:836-43.Full text  Abstract

113. Choi JH, Shin YL, Kim GH, et al. Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res. 2005;63:294-299. Abstract

114. Al-Sukaiti N, Reid B, Lavi S, et al. Safety and efficacy of measles, mumps, and rubella vaccine in patients with DiGeorge syndrome. J Allergy Clin Immunol. 2010;126:868-869. Abstract

115. Sullivan KE, McDonald-McGinn DM, Driscoll DA, et al. Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum. 1997;40:430-436. Abstract

116. Rommel N, Vantrappen G, Swillen A, et al. Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome. Genet Couns. 1999;10:71-78. Abstract

117. da Silva Dalben G, Richieri-Costa A, de Assis Taveira LA. Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008;106:e46-e51. Abstract

118. Zemble R, Luning Prak E, McDonald K, et al. Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol. 2010;136:409-418. Abstract

119. Lawrence S, McDonald-McGinn DM, Zackai E, et al. Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. 2003;143:277-278. Abstract

120. Mansour AM, Goldberg RB, Wang FM, et al. Ocular findings in the velo-cardio-facial syndrome. J Pediatr Ophthalmol Strabismus. 1987;24:263-266. Abstract

121. Zarchi O, Attias J, Raveh E, et al. A comparative study of hearing loss in two microdeletion syndromes: velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes. J Pediatr. 2011;158:301-306. Abstract

122. Homans JF, Baldew VGM, Brink RC, et al. Scoliosis in association with the 22q11.2 deletion syndrome: an observational study. Arch Dis Child. 2019 Jan;104(1):19-24. Abstract