Síndrome de DiGeorge

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

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. Resumo

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. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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

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

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. Resumo

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. Resumo

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. Resumo

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

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. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

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

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. Resumo

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.Texto completo  Resumo

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

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

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

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. Resumo

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

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

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. Resumo

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. Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

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. Resumo

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

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. Resumo

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.Texto completo  Resumo

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. Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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

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. Resumo

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

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

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. Resumo

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. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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

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

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. Resumo

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

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.Texto completo  Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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

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. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

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. Resumo

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

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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. Resumo

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. Resumo

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

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

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. Resumo

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. Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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.Texto completo  Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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. Resumo

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

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. Resumo

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. Resumo