Phenotype of adults with the 22q11 deletion syndrome: A review

American Journal of Medical Genetics

Volumn 86, Issue 4, 1999, Pages 359-365

  Cohen, Eyal ^a   Chow, Eva W C ^a,b   Weksberg, Rosanna ^c   Bassett, Anne S ^a,b  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

22q11 deletion syndrome; Adults; Ascertainment; Outcome; Phenotype; Velocardiofacial syndrome

Indexed keywords

ADULT; CHROMOSOME 22Q; CHROMOSOME DELETION; CLEFT PALATE; CONGENITAL HEART DISEASE; HUMAN; MAJOR CLINICAL STUDY; MENTAL DISEASE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; VELOCARDIOFACIAL SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AGED; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CLEFT PALATE; CRANIOFACIAL ABNORMALITIES; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; LEARNING DISORDERS; MALE; MENTAL DISORDERS; MENTAL RETARDATION; MIDDLE AGED; PHENOTYPE; SYNDROME;

GENETTA;

EID: 0032871644     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991008)86:4<359::AID-AJMG10>3.0.CO;2-V     Document Type: Review

References (79)

1. Adachi M, Tachibana K, Masuno M, Makita Y, Maesaka H, Okada T, Hizukuri K, Imaizumi K, Kuroki Y, Kurahashi H, Suwa S. 1998. Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion. Eur J Pediatr 157:34-38.
2. American Psychiatric Association. 1994. Diagnostic and statistical manual of mental disorders, 4th ed. (DSM-IV). Washington, DC: American Psychiatric Association.
3. Bassett AS, Chow EWC. 1999. 22q11 Deletion Syndrome: a genetic subtype of schizophrenia. Biol Psychiatry, in press.
4. Bassett AS, Hodgkinson K, Chow EWC, Correia S, Scutt L, Weksberg R. 1998. 22q11 deletion syndrome in adults with schizophrenia. Am J Med Genet (Neuropsychiatr Genet) 81:328-337.
5. Brøndum-Nielsen K, Christensen K. 1996. Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability. A survey based on the Danish Facial Cleft Register. Clin Genet 50:116-120.
6. Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J. 1993. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet 30:822-824.
7. Carlson C, Papolos D, Pandita RK, Faedda GL, Veit S, Goldberg R, Shprintzen R, Kucherlapati R, Morrow B. 1997. Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders. Am J Hum Genet 60:851-859.
8. Chow EWC, Bassett AS, Weksberg R. 1994. Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics. Am J Med Genet (Neuropsychiatr Genet) 54:107-112.
9. Chow LY, Waye MMY, Garcia-Barcelo M, Chiu HFK, Fung KP, Lee CY. 1998. Velo-cardio-facial syndrome, schizophrenia and deletion at chromosome 22q11. Journal of Intellectual Disability Research 44:184-188.
10. Cuneo BF, Driscoll DA, Gidding SS, Langman CB. 1997. Evolution of latent hypoparathyroidism in familial 22q11 deletion syndrome. Am J Med Genet 69:50-55.
11. De Silva D, Duffty P, Booth P, Auchterlonie I, Morrison N, Dean JC. 1995. Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity. Clin Dysmorphology 4:294-303.
12. Demczuk S, Aurias A. 1995. DiGeorge syndrome and related syndromes associated with 22q11.2 deletions: a review. Ann Genet 38:59-76.
13. Desmaze C, Prieur M, Amblard F, Aikem M, LeDeist F, Demczuk S, Zucman J, Plougastel B, Delattre O, Croquette M-F, Breviére G-M, Huon C, Merrer ML, Mathieu M, Sidi D, Stephan J-L, Aurias A. 1993. Physical mapping by FISH of the DiGeorge critical region (DGCR. involvement of the region in familial cases. Am J Hum Genet 53:1239-1249.
14. Devriendt K, Moerman P, Van Schoubroeck D, Vandenberghe K, Fryns JP. 1997a. Chromosome 22q11 deletion presenting as the Potter sequence. J Med Genet 34:423-425.
15. Devriendt K, Van Hoestenberghe R, Van Hole C, Devlieger H, Gewillig M, Moerman P, Van den Berghe H, Fryns JP. 1997b. Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion. Clin Genet 51:246-249.
16. Devriendt K, Fryns JP, Mortier G, Van Thienen MN, Keymolen K. 1998. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 35:789-790.
17. Digilio MC, Marino B, Giannotti A, Dallapiccola B. 1997. Familial deletions of chromosome 22q11 [letter; comment]. Am J Med Genet 73:95-96.
18. Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS. 1993. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet 30:813-817.
19. Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC, Mascarello JT, Emanuel BS. 1992. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 44:261-268.
20. Du Montcel ST, Mendizabal H, Ayme S, Levy A, Philip N. 1996. Prevalence of 22q11 microdeletion (letter). J Med Genet 33:719.
21. Fryer A. 1996. Monozygotic twins with 22q11 deletion and discordant phenotypes. J Med Genet 33:261-264.
22. Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ. 1993. Velo-cardic-facial syndrome: a review of 120 patients. Am J Med Genet 45:313-319.
23. Golding-Kushner KJ, Weller G, Shprintzen RJ. 1985. Velo-cardio-facial syndrome: language and psychological profiles. J Craniofac Genet Dev Biol 5:259-266.
24. Gothelf D, Frisch A, Munitz H, Rockah R, Aviram A, Mozes T, Birger M, Weizman A, Frydman M. 1997. Velocardiofacial manifestations and microdeletions in schizophrenic patients. Am J Med Genet 72:455-461.
25. Greenberg F, Crowder WE, Paschall V, Colon-Linares J, Lubianski B, Ledbetter DH. 1984. Familial DiGeorge syndrome and associated partial monosomy of chromosome 22. Hum Genet 65:317-319.
26. Gripp KW, McDonald-McGinn DM, Driscoll DA, Reed LA, Emanuel BS, Zackai EH. 1997. Nasal dimple as part of the 22q11.2 deletion syndrome. Am J Med Genet 69:290-292.
27. Holder SE, Winter RM, Kamath S, Scambler PJ. 1993. Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. J Med Genet 30:825-827.
28. Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R, Borrow J, Gos A, Nestadt G, Wolyniec PS, Lasseter VK, Eisen H, Childs B, Kazazian HH, Kucherlapati R, Antonarakis SE, Pulver AE, Housman DE. 1995. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci USA 92:7612-7616.
29. Karr SS, Brenner JI, Loffredo C, Neill CA, Rubin JD. 1992. The spectrum of severity in a regional study, 1981-1985. Arch Pediatr Adolesc Med 146:121-124.
30. Keppen LD, Fasules JW, Burks AW, Gollin SM, Sawyer JR, Miller CH. 1988. Confirmation of autosomal dominant transmission of the DiGeorge malformation complex. J Pediatr 113:506-508.
31. Kitano I, Park S, Kato K, Nitta N, Takato T, Susami T. 1997. Craniofacial morphology of conotruncal anomaly face syndrome. Cleft Palate Craniofac J 34:425-429.
32. Kok LL, Solman RT. 1995. Velocardiofacial syndrome: learning difficulties and intervention. J Med Genet 32:612-618.
33. Kozma C. 1998. On cognitive variability in velocardiofacial syndrome: profound mental retardation and autism. Am J Med Genet 81:269-270.
34. Leana-Cox J, Pangkanon S, Eanet KR, Curtin MS, Wulfsberg EA. 1996. 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 65:309-316.
35. Levy A, Michel G, Lemerrer M, Philip N. 1997. Idiopathic thromobocytopenic purpura in two mothers of children with DiGeorge sequence: A new component manifestation of deletion 22q11? Am J Med Genet 69: 356-359.
36. Lindsay EA, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati RS, Shprintzen RJ, Baldini A. 1995a. Velo-cardio-facial syndrome: Frequency and extent of 22q11 deletions. Am J Med Genet 57:514-522.
37. Lindsay EA, Greenberg F, Shaffer LG, Shapira SK, Scambler PJ, Baldini A. 1995b. Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region. Am J Med Genet 56:191-197.
38. Lindsay EA, Halford S, Wadey R, Scambler PJ, Baldini A. 1993. Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics 17:403-407.
39. Lipson AH, Yuille D, Angel M, Thompson PG, Vandervoord JG, Beckenham EJ. 1991. Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. J Med Genet 28:596-604.
40. Lynch DR, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KH. 1995. Cerebellar atrophy in a patient with velocardiofacial syndrome. J Med Genet 32:561-563.
41. Maaswinkel-Mooij PD, Papapoulos SE, Gerritsen EJ, Mudde AH, Van de Kamp JJ. 1989. Facial dysmorphia, parathyroid and thymic dysfunction in the father of a newborn with the DiGeorge complex. Eur J Pediatr 149:179-183.
42. Marble M, Morava E, Tsien F, Amedee R, Pierce M. 1998. Subglottic web in a mother and son with 22q11.2 deletion. Am J Med Genet 75:537.
43. Matsouka R, Kimura M, Scambler PJ, Morrow BE, Imamura S, Minoshima S, Shimizu N. 1998. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet 103:70-80.
44. McCandless SE, Scott JA, Robin NH. 1998. Deletion 22q11: a newly recognized cause of behavioral and psychiatric disorders. Arch Pediatr Adolesc Med 152:481-484.
45. McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J, Paris Y, Weinberg P, Clark BJ, Emanuel BS, Zackai EH. 1995. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet 59:103-113.
46. McLean SD, Saal HM, Spinner NB, Emanuel BS, Driscoll DA. 1993. Velo-cardio-facial syndrome: intrafamilial variability of the phenotype (review). Am J Dis Child 147:1212-1216.
47. Mehraein Y, Wippermann CF, Michel-Behnke I, Nhan Ngo TK, Hillig U, Giersberg M, Aulepp U, Barth H, Fritz B, Rehder H. 1997. Microdeletion 22q11 in complex cardiovascular malformations. Hum Genet 99: 433-442.
48. Meinecke P, Beemer FA, Schinzel A, Kushnick T. 1986. The velo-cardio-facial (Shprintzen) syndrome: clinical variability in eight patients. Eur J Pediatr 145:539-544.
49. Morrow B, Goldberg R, Carlson C, Gupta RD, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R, Kucherlapati R. 1995. Molecular definition of the 22qll deletions in velo-cardio-facial syndrome. Am J Hum Genet 56:1391-1403.
50. Motzkin B, Marion R, Goldberg R, Shprintzen R, Saenger P. 1993. Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J Pediatr 123:406-410.
51. Murphy KC, Jones RG, Griffiths E, Thompson PW, Owen MJ. 1998. Chromosome 22q11 deletions. An under-recognised cause of idiopathic learning disability. Br J Psychiatry 172:180-183.
52. Murphy KC, Owen MJ. 1997. The behavioural phenotype in velo-cardio-facial-syndrome. Am J Hum Genet 61:A5.
53. Nollert G, Fischlein T, Bouterwek S, Bohmer C, Dewald O, Kreuzer E, Welz A, Netz H, Klinner W, Reichart B. 1997. Long-term results of total repair of tetralogy of Fallot in adulthood: 35 years follow-up in 104 patients corrected at the age of 18 or older. Thorac Cardiovasc Surg 45:178-181.
54. Papolos DF, Faedda GL, Veit S, Goldberg R, Morrow B, Kucherlapati R, Shprintzen RJ. 1996. Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: Does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am J Psychiatry 153:1541-1547.
55. Pulver AE, Nestadt G, Goldberg R, Shprintzen RJ, Lamacz M, Wolyniec PS, Morrow B, Karayiorgou M, Antonarakis SE, Housman D, Kucherlapati R. 1994. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis 182:476-478.
56. Ravnan JB, Chen E, Golabi M, Lebo RV. 1996. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Am J Med Genet 66:250-256.
57. Rohn RD, Leffell MS, Leadem P, Johnson D, Rubio T, Emanuel BS. 1984. Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission. J Pediatr 105:47-51.
58. Ryan A, Goodship JA, Wilson DI. 1998. Replies to letters regarding clinical features of chromosome 22q11 deletion. J Med Genet 35:347.
59. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Brueton L, Broøndum-Nielsen K, Stewart F, Essen TV, Patton M, Paterson J, Scambler PJ. 1997. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798-804.
60. Scambler PJ, Carey AH, Wyse RKH, Roach S, Dumanski JP, Nordenskjold M, Williamson R. 1991. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 10:201-206.
61. Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, Shprintzen R, Wilson DI, Goodship JA, Cross IE, Burn J. 1992. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 339:1138-1139.
62. Scire G, Dallapiccola B, Iannetti P, Bonaiuto F, Galasso C, Mingarelli R, Boscherini B. 1994. Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions. Am J Med Genet 52:478-482.
63. Shalev SA, Dar H, Barel H, Borochowitz Z. 1996. Upper limb malformations in chromosome 22q11 deletions. Am J Med Genet 62:302.
64. Shprintzen RJ, Goldberg R, Golding-Kushner KJ, Marion RW. 1992. Late-onset psychosis in the velo-cardio-facial syndrome (letter). Am J Med Genet 42:141-142.
65. Shprintzen RJ, Goldberg RB, Young D, Wolford L. 1981. The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics 67:167-172.
66. Stevens CA, Carey JC, Shigeoka AO. 1990. DiGeorge anomaly and velocardiofacial syndrome. Pediatrics 85:526-530.
67. Strong WB. 1968. Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism. J Pediatr 73:882-888.
68. Swillen A, Devriendt K, Legius E, Eyskens B, Dumoulin M, Gewillig M, Fryns JP. 1997. Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet 34:453-458.
69. Thomas JA, Graham JM Jr. 1997. Chromosome 22q11 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr 36: 253-266.
70. Van Hemel JO, Schaap C, Vam Opstal D, Mulder MP, Niermeijer MF, Meijers JH. 1995. Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion. J Med Genet 2:657-658.
71. Vataja R, Elomaa E. 1998. Midline brain anomalies and schizophrenia in people with CATCH 22 syndrome. Br J Psychiatry 172:518-520.
72. Wang P, Solot C, Moss E. 1998. Developmental presentation of 22q11.2 deletion. J Dev Beh Ped 19:342-345.
73. Williams MA, Shprintzen RJ, Goldberg RB. 1985. Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases. J Craniofac Genet Dev Biol 5:175-180.
74. Wilson DI, Burn J, Scambler P, Goodship J. 1993. DiGeorge syndrome: part of CATCH 22. J Med Genet 30:852-856.
75. Wilson DI, Cross IE, Goodship JA, Brown J, Scambler PJ, Bain HH, Taylor JF, Walsh K, Bankier A, Burn J, Wolstenholme J. 1992. A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Hum Genet 51:957-963.
76. Wilson DI, Cross IE, Goodship JA, Coulthard S, Carey AH, Scambler PJ, Bain HH, Hunter AS, Carter PE, Burn J. 1991. DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. Br Heart J 66:308-312.
77. Winter WE, Silverstein JH, Barrett DJ, Kiel E. 1984. Familial DiGeorge syndrome with tetralogy of Fallot and prolonged survival. Eur J Pediatr 141:171-172.
78. Wraith JE, Super M, Watson GH, Phillips M. 1985. Velo-cardio-facial syndrome presenting as holoprosencephaly. Clin Genet 27:408-410.
79. Young D, Shprintzen RJ, Goldberg RB. 1980. Cardiac malformations in the velocardiofacial syndrome. Am J Cardiol 46:643-648.