DiGeorge综合征

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

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;112:101-107. 摘要

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;120:908-915. 摘要

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;41:413-420.全文  摘要

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;98:11428-11431.全文  摘要

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.全文  摘要

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;103:1020-1025.全文  摘要

Markert ML, Boeck A, Hale LP, et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med. 1999;341:1180-1189.全文  摘要

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

2. 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;128:1375-1376. 摘要

3. 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. 摘要

4. 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. 摘要

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

6. 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. 摘要

7. 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.全文  摘要

8. 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;89:148-151.全文  摘要

9. 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;112:101-107. 摘要

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

11. 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;120:908-915. 摘要

12. Wilson DI, Cross IE, Goodship JA, et al. A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Hum Genet. 1992;51:957-963.全文  摘要

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

14. 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.全文  摘要

15. 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;41:413-420.全文  摘要

16. 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.全文  摘要

17. Edelmann L, Pandita RK, Spiteri E, et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet. 1999;8:1157-1167. 摘要

18. Yagi H, Furutani Y, Hamada H, et al. Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003;362:1366-1373. 摘要

19. Daw SCM, Taylor C, Kraman M, et al. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet. 1996;13:458-460. 摘要

20. Sanka M, Tangsinmankong N, Loscalzo M, et al. Complete DiGeorge syndrome associated with CHD7 mutation. J Allergy Clin Immunol. 2007;120:952-954. 摘要

21. Vitelli F, Taddei I, Morishima M, et al. A genetic link between Tbx1 and fibroblast growth factor signaling. Development. 2002;129:4605-4611.全文  摘要

22. 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:1233-1243. 摘要

23. Rope AF, Cragun DL, Saal HM, et al. DiGeorge anomaly in the absence of chromosome 22q11.2 deletion. J Pediatr. 2009;155:560-565. 摘要

24. 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. 摘要

25. 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.全文  摘要

26. 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. 摘要

27. 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;98:11428-11431.全文  摘要

28. 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.全文  摘要

29. 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;107:466-471. 摘要

30. 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. 摘要

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

32. 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. 摘要

33. 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.全文  摘要

34. 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. 摘要

35. 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. 摘要

36. 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):2087-2098.全文  摘要

37. Schecklmann M, Schwenck C, Taurines R, et al. A systematic review on olfaction in child and adolescent psychiatric disorders. J Neural Transm. 2013;120:121-130. 摘要

38. Tarquinio DC, Jones MC, Jones KL, et al. Growth charts for 22q11 deletion syndrome. Am J Med Genet A. 2012;158A:2672-2681. 摘要

39. 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:2665-2671. 摘要

40. Marino B, Digilio MC, Toscano A, et al. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med. 2001;3:45-48. 摘要

41. Wilson TA, Blethen SL, Vallone A, et al. DiGeorge anomaly with renal agenesis in infants of mothers with diabetes. Am J Med Genet. 1993;47:1078-1082. 摘要

42. Wang R, Martinez-Frias M, Graham JM Jr. Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: a case-based and case-control approach. J Pediatr. 2002;141:611-617. 摘要

43. Gosseye S, Golaire MC, Verellen G, et al. Association of bilateral renal agenesis and Di George syndrome in an infant of a diabetic mother. Helv Paediatr Acta. 1982;37:471-474. 摘要

44. Novak RW, Robinson HB. Coincident DiGeorge anomaly and renal agenesis and its relation to maternal diabetes. Am J Med Genet. 1994;50:311-312. 摘要

45. Lupski JR, Langston C, Friedman R, et al. Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2). Am J Med Genet. 1991;40:196-198. 摘要

46. DeBerardinis RJ, Medne L, Spinner NB, et al. DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother. Am J Med Genet A. 2005;138A:155-159. 摘要

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

48. 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. 摘要

49. Habel A, Herriot R, Kumararatne D, et al. Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times. Eur J Pediatr. 2014;173:757-765.全文  摘要

50. 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.全文  摘要

51. 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. 摘要

52. 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. 摘要

53. 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. 摘要

54. 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.全文  摘要

55. 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.全文  摘要

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

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

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

59. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007;370:1443-1452. 摘要

60. 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;103:1020-1025.全文  摘要

61. 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. 摘要

62. Saitta SC, Harris SE, McDonald-McGinn DM, et al. Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome. Am J Med Genet A. 2004;124A:313-317. 摘要

63. Stanczak CM, Chen Z, Nelson SF, et al. Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) syndrome. Hum Mutat. 2008;29:176-181. 摘要

64. Naqvi N, Davidson SJ, Wong D, et al. Predicting 22q11.2 deletion syndrome: a novel method using the routine full blood count. Int J Cardiol. 2011;150:50-53. 摘要

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

66. 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. 摘要

67. 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.全文  摘要

68. 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.全文  摘要

69. 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.全文  摘要

70. 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. 2007 May 15;109(10):4539-47.全文  摘要

71. 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. 摘要

72. 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. 摘要

73. Theodoropoulos DS. Immune deficiency in CHARGE association. Clin Med Res. 2003 Jan;1(1):43-8.全文  摘要

74. 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. 摘要

75. 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. 摘要

76. 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. 摘要

77. 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;19:526-534. 摘要

78. 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. 摘要

79. 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;172:927-945. 摘要

80. 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. 摘要

81. 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):984-999.全文  摘要

82. 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;24:501-504. 摘要

83. Markert ML, Boeck A, Hale LP, et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med. 1999;341:1180-1189.全文  摘要

84. 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. 摘要

85. 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.全文  摘要

86. 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. 摘要

87. 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. 摘要

88. 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. 摘要

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

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

91. 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. 摘要

92. 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;34:1141-1143. 摘要

93. Ysunza A, Pamplona MC, Molina F, et al. Surgical planning for restoring velopharyngeal function in velocardiofacial syndrome. Int J Pediatr Otorhinolaryngol. 2009;73:1572-1575. 摘要

94. 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.全文  摘要

95. 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;34:341-347. 摘要

96. 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.全文  摘要

97. 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.

98. Matarazzo P, Tuli G, Fiore L, et al. Teriparatide (rhPTH) treatment in children with syndromic hypoparathyroidism. J Pediatr Endocrinol Metab. 2014;27:53-59. 摘要

99. Chinn I, Olsen J, Skinner M, et al. Parathyroid and thymus transplantation in DiGeorge syndrome. Clin Immunol. 2006;119:S141.

100. Butcher NJ, Chow EW, Costain G, et al. Functional outcomes of adults with 22q11.2 deletion syndrome. Genet Med. 2012;14:836-843. 摘要

101. Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998:32;492-498. 摘要

102. Van Mierop LH, Kutsche LM. Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor. Am J Cardiol. 1986;58:133-137. 摘要

103. Bassett AS, Chow EW, Husted J, et al. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A. 2005;138A:307-313. 摘要

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

105. Stagi S, Lapi E, Gambineri E, et al. Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). Clin Endocrinol (Oxf). 2010;72:839-844. 摘要

106. 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. 摘要

107. 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. 摘要

108. 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. 摘要

109. 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. 摘要

110. 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. 摘要

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

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

113. 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. 摘要