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Volumn 6, Issue 1, 1996, Pages 19-28

22q11 deletions and cardiac disease

Author keywords

Aortic arch anomaly; Chromosome 22q11 deletions; Congenital heart disease; Conotruncal cardiac defect; DiGeorge syndrome; Molecular cardiology; Velo cardio facial syndrome

Indexed keywords

AORTA ARCH ANOMALY; CHROMOSOME 22Q; CHROMOSOME DELETION; CONGENITAL HEART DISEASE; DIGEORGE SYNDROME; HEART DISEASE; PRIORITY JOURNAL; REVIEW;

EID: 0030221437     PISSN: 10589813     EISSN: None     Source Type: Journal    
DOI: 10.1016/1058-9813(96)00168-3     Document Type: Article
Times cited : (15)

References (51)
  • 1
    • 0027154167 scopus 로고
    • Causes of CHD: Old and new modes, mechanisms and models
    • [1] Nora JJ. Causes of CHD: old and new modes, mechanisms and models. Am Heart J 1993;125:1409-1418.
    • (1993) Am Heart J , vol.125 , pp. 1409-1418
    • Nora, J.J.1
  • 2
    • 0028037979 scopus 로고
    • Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization
    • [2] Demczuk S, Desmaze C, Aikem M et al. Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization. Ann Genet 1994;37:60-65.
    • (1994) Ann Genet , vol.37 , pp. 60-65
    • Demczuk, S.1    Desmaze, C.2    Aikem, M.3
  • 3
    • 0026750771 scopus 로고
    • A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
    • [3] Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 1992;50:924-933.
    • (1992) Am J Hum Genet , vol.50 , pp. 924-933
    • Driscoll, D.A.1    Budarf, M.L.2    Emanuel, B.S.3
  • 4
    • 0027442395 scopus 로고
    • Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects
    • [4] Goldmuntz E, Driscoll D, Budarf ML et al. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. J Med Genet 1993;30:807-812.
    • (1993) J Med Genet , vol.30 , pp. 807-812
    • Goldmuntz, E.1    Driscoll, D.2    Budarf, M.L.3
  • 5
  • 6
    • 0028051866 scopus 로고
    • Clinical and molecular study of DiGeorge sequence
    • [6] Levy-Mozziconacci A, Ernert F, Scambler P et al. Clinical and molecular study of DiGeorge sequence. Eur J Pediatr 1994;153:813-820.
    • (1994) Eur J Pediatr , vol.153 , pp. 813-820
    • Levy-Mozziconacci, A.1    Ernert, F.2    Scambler, P.3
  • 7
    • 0029634412 scopus 로고
    • Velo-cardio-facial syndrome: Frequency and extent of 22q11 deletions
    • [7] Lindsay EA, Goldberg R, Jurecic V et al. Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions. Am J Med Genet 1995;57:514-522.
    • (1995) Am J Med Genet , vol.57 , pp. 514-522
    • Lindsay, E.A.1    Goldberg, R.2    Jurecic, V.3
  • 8
    • 0028943334 scopus 로고
    • Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region
    • [8] Lindsay EA, Greenberg F, Shaffer LG, Shapira SK, Scambler PJ, Baldini A. Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region. Am J Med Genet 1995;56:191-197.
    • (1995) Am J Med Genet , vol.56 , pp. 191-197
    • Lindsay, E.A.1    Greenberg, F.2    Shaffer, L.G.3    Shapira, S.K.4    Scambler, P.J.5    Baldini, A.6
  • 9
    • 0028843726 scopus 로고
    • Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: A prospective study
    • [9] Takahashi K, Kido S, Hoshino K, Ogawa K, Ohashi H, Fukushima Y. Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study. Eur J Pediatr 1995;154:878-881.
    • (1995) Eur J Pediatr , vol.154 , pp. 878-881
    • Takahashi, K.1    Kido, S.2    Hoshino, K.3    Ogawa, K.4    Ohashi, H.5    Fukushima, Y.6
  • 10
    • 0026725876 scopus 로고
    • Deletions within chromosome 22q11 in familial congenital heart disease
    • [10] Wilson DI, Goodship JA, Burn J, Cross IE, Scambler PJ. Deletions within chromosome 22q11 in familial congenital heart disease. Lancet 1992;340:573-575.
    • (1992) Lancet , vol.340 , pp. 573-575
    • Wilson, D.I.1    Goodship, J.A.2    Burn, J.3    Cross, I.E.4    Scambler, P.J.5
  • 11
    • 0026739254 scopus 로고
    • A prospective cytogenetic study of 36 cases of DiGeorge syndrome
    • [11] 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.
    • (1992) Am J Hum Genet , vol.51 , pp. 957-963
    • Wilson, D.I.1    Cross, I.E.2    Goodship, J.A.3
  • 12
    • 0028797116 scopus 로고
    • Transposition of the great arteries associated with deletion of chromosome 22q11
    • [12] Melchionda S, Digilio CD, Mingarelli R et al. Transposition of the great arteries associated with deletion of chromosome 22q11. Am J Cardiol 1995;75:95-98.
    • (1995) Am J Cardiol , vol.75 , pp. 95-98
    • Melchionda, S.1    Digilio, C.D.2    Mingarelli, R.3
  • 13
    • 0030058764 scopus 로고    scopus 로고
    • Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion
    • [13] Momma K, Kondo C, Matsuoka R. Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion. J Am Coll Cardiol 1996;27:198-202.
    • (1996) J Am Coll Cardiol , vol.27 , pp. 198-202
    • Momma, K.1    Kondo, C.2    Matsuoka, R.3
  • 14
    • 0029048554 scopus 로고
    • Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome
    • [14] Johnson MC, Strauss AW, Dowton SB et al. Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am J Cardiol 1995;76:66-69.
    • (1995) Am J Cardiol , vol.76 , pp. 66-69
    • Johnson, M.C.1    Strauss, A.W.2    Dowton, S.B.3
  • 15
    • 0028990403 scopus 로고
    • 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot
    • [15] Amati F, Mari A, Digilio MC et al. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet 1995;95:479-482.
    • (1995) Hum Genet , vol.95 , pp. 479-482
    • Amati, F.1    Mari, A.2    Digilio, M.C.3
  • 16
    • 0024156563 scopus 로고
    • Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch
    • [16] Pierpont MEM, Gobel JW, Moller JH, Edwards JE. Cardiac malformations in relatives of children with truncus arteriosus or interruption of the aortic arch. Am J Cardiol 1988;61:423-427.
    • (1988) Am J Cardiol , vol.61 , pp. 423-427
    • Pierpont, M.E.M.1    Gobel, J.W.2    Moller, J.H.3    Edwards, J.E.4
  • 17
  • 18
    • 0026511084 scopus 로고
    • Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
    • [18] Scambler PJ, Kelly D, Lindsay E et al. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 1992;339:1138-1139.
    • (1992) Lancet , vol.339 , pp. 1138-1139
    • Scambler, P.J.1    Kelly, D.2    Lindsay, E.3
  • 19
    • 0027373693 scopus 로고
    • Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11
    • [19] Burn J, Takao A, Wilson D et al. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet 1993;30:822-824.
    • (1993) J Med Genet , vol.30 , pp. 822-824
    • Burn, J.1    Takao, A.2    Wilson, D.3
  • 20
    • 0000399572 scopus 로고
    • Congenital absence of the thymus and its immunologic consequences: Concurrence with congenital hypoparathyroidism
    • White Plains, New York: March of Dimes-Birth Defects Foundation
    • [20] DiGeorge AM. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism, White Plains, New York: March of Dimes-Birth Defects Foundation. Birth Defects 1968;IV:116-121.
    • (1968) Birth Defects , vol.4 , pp. 116-121
    • DiGeorge, A.M.1
  • 21
    • 0001590320 scopus 로고
    • Mechanisms in the pathogenesis of congenital cardiac malformations
    • Pierpont ME and Moller JM, editors. Boston; Martinus-Nijhoff
    • [21] Clark EB. Mechanisms in the pathogenesis of congenital cardiac malformations. In: Pierpont ME and Moller JM, editors. The Genetics of Cardiovascular Disease. Boston; Martinus-Nijhoff, 1987:3-11.
    • (1987) The Genetics of Cardiovascular Disease , pp. 3-11
    • Clark, E.B.1
  • 22
    • 0019511103 scopus 로고
    • A deletion in chromosome 22 can cause DiGeorge syndrome
    • [22] de la Chapelle A, Herva R, Koivisto M, Aulla O. A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 1981;57:253-256.
    • (1981) Hum Genet , vol.57 , pp. 253-256
    • De La Chapelle, A.1    Herva, R.2    Koivisto, M.3    Aulla, O.4
  • 23
    • 0025796855 scopus 로고
    • Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
    • [23] Scambler PJ, Carey AH, Wyse RKH et al. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 1991;10:201-210.
    • (1991) Genomics , vol.10 , pp. 201-210
    • Scambler, P.J.1    Carey, A.H.2    Wyse, R.K.H.3
  • 25
    • 0029084858 scopus 로고
    • Tetralogy of Fallot associated with chromosome 22q11 deletion
    • [25] Momma K, Kondo C, Ando M, Matsuoka R, Takao A. Tetralogy of Fallot associated with chromosome 22q11 deletion. Am J Cardiol 1995;76:618-6-20.
    • (1995) Am J Cardiol , vol.76 , pp. 618-620
    • Momma, K.1    Kondo, C.2    Ando, M.3    Matsuoka, R.4    Takao, A.5
  • 26
    • 0022939117 scopus 로고
    • The DiGeorge anomaly as a developmental field defect
    • [26] Lammer EJ, Opitz JM. The DiGeorge anomaly as a developmental field defect. Am J Med Genet I986;2(suppl):113-127.
    • (1986) Am J Med Genet , vol.2 , Issue.SUPPL. , pp. 113-127
    • Lammer, E.J.1    Opitz, J.M.2
  • 27
    • 0022939134 scopus 로고
    • Fetal alcohol syndrome and DiGeorge anomaly: Critical ethanol exposure periods for craniofacial malformations as illustrated in an animal model
    • [27] Sulik KK, Johnson MC, Daft PA, Russell WE, Dehart DB. Fetal alcohol syndrome and DiGeorge anomaly: Critical ethanol exposure periods for craniofacial malformations as illustrated in an animal model. Am J Med Genet 1986;2(suppl):97-112.
    • (1986) Am J Med Genet , vol.2 , Issue.SUPPL. , pp. 97-112
    • Sulik, K.K.1    Johnson, M.C.2    Daft, P.A.3    Russell, W.E.4    Dehart, D.B.5
  • 28
    • 0024992614 scopus 로고
    • Role of neural crest in congenital heart disease
    • [28] Kirby ML, Waldo KL. Role of neural crest in congenital heart disease. Circulation 1990;82:332-340.
    • (1990) Circulation , vol.82 , pp. 332-340
    • Kirby, M.L.1    Waldo, K.L.2
  • 29
    • 0015367782 scopus 로고
    • Pathogenetic mechanisms in congenital cardiovascular malformations
    • [29] Van Mierop LHS, Gessner IH. Pathogenetic mechanisms in congenital cardiovascular malformations. Prog Cardiovasc Dis 1972;15:67-85.
    • (1972) Prog Cardiovasc Dis , vol.15 , pp. 67-85
    • Van Mierop, L.H.S.1    Gessner, I.H.2
  • 30
    • 0016828772 scopus 로고
    • The neural crest in abnormalities of the face and brain
    • Bergsma D, editor. New York: Alan R. Liss, Inc., for the National Foundation-March of Dimes
    • [30] Johnson MC. The neural crest in abnormalities of the face and brain. In: Bergsma D, editor. Morphogenesis and Malformation of Face and Brain. New York: Alan R. Liss, Inc., for the National Foundation-March of Dimes 1975;XI(7):1-18.
    • (1975) Morphogenesis and Malformation of Face and Brain , vol.11 , Issue.7 , pp. 1-18
    • Johnson, M.C.1
  • 31
    • 0020640517 scopus 로고
    • Neural crest cells contribute to normal aortopulmonary septation
    • [31] Kirby ML, Gale TF, Stewart DE. Neural crest cells contribute to normal aortopulmonary septation. Science 1983;220:1059-1061.
    • (1983) Science , vol.220 , pp. 1059-1061
    • Kirby, M.L.1    Gale, T.F.2    Stewart, D.E.3
  • 32
    • 0024390905 scopus 로고
    • Plasticity and pre-determination of mesencephalic and trunk neural crest transplanted into the region of the cardiac neural crest
    • [32] Kirby ML. Plasticity and pre-determination of mesencephalic and trunk neural crest transplanted into the region of the cardiac neural crest. Dev Biol 1989;134:401-412.
    • (1989) Dev Biol , vol.134 , pp. 401-412
    • Kirby, M.L.1
  • 33
    • 0024454133 scopus 로고
    • Alteration of early vascular development after ablation of cranial neural crest
    • [33] Brockman DE, Redmond ME, Kirby ML. Alteration of early vascular development after ablation of cranial neural crest. Anatom Rec 1989;225:209-217.
    • (1989) Anatom Rec , vol.225 , pp. 209-217
    • Brockman, D.E.1    Redmond, M.E.2    Kirby, M.L.3
  • 34
    • 0028869111 scopus 로고
    • Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome
    • [34] Levy A, Demczuk S, Aurias A, Depetris D, Mattel M-G, Philip N. Interstitial 22q11 microdeletion excluding the ADD breakpoint in a patient with DiGeorge syndrome. Hum Mol Genet 1995;4:2417-2419.
    • (1995) Hum Mol Genet , vol.4 , pp. 2417-2419
    • Levy, A.1    Demczuk, S.2    Aurias, A.3    Depetris, D.4    Mattel, M.-G.5    Philip, N.6
  • 35
    • 0029968116 scopus 로고    scopus 로고
    • A transcription map in the CATCH22 critical region: Identification, mapping and ordering of four novel transcripts expressed in heart
    • [35] Lindsay EA, Rizzu P, Antonacci R et al. A transcription map in the CATCH22 critical region: Identification, mapping and ordering of four novel transcripts expressed in heart. Genomics 1996;32:104-112.
    • (1996) Genomics , vol.32 , pp. 104-112
    • Lindsay, E.A.1    Rizzu, P.2    Antonacci, R.3
  • 36
    • 0027328673 scopus 로고
    • Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization
    • [36] Lindsay EA, Halford S, Wadey R, Scambler PJ, Baldini A. Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics 1993;17:403-407.
    • (1993) Genomics , vol.17 , pp. 403-407
    • Lindsay, E.A.1    Halford, S.2    Wadey, R.3    Scambler, P.J.4    Baldini, A.5
  • 37
    • 0028135336 scopus 로고
    • Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
    • [37] Foster JW, Dominguez-Steglich MA, Guioli S et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994;372:525-530.
    • (1994) Nature , vol.372 , pp. 525-530
    • Foster, J.W.1    Dominguez-Steglich, M.A.2    Guioli, S.3
  • 38
    • 0028589588 scopus 로고
    • Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
    • [38] Wagner T, Wirth J, Meyer J et al. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 1994;79:1111-1120.
    • (1994) Cell , vol.79 , pp. 1111-1120
    • Wagner, T.1    Wirth, J.2    Meyer, J.3
  • 39
    • 0027731681 scopus 로고
    • Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial heart disease
    • [39] Halford S, Wilson DI, Roberts C et al. Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial heart disease. Hum Mol Genet 1993;2:2099-2107.
    • (1993) Hum Mol Genet , vol.2 , pp. 2099-2107
    • Halford, S.1    Wilson, D.I.2    Roberts, C.3
  • 40
    • 0029038946 scopus 로고
    • A human homolog of the S. Cerevisiae HIR1 and HIR2 transcription repressors cloned from the DiGeorge syndrome critical region
    • [40] Lamour V, Le'cluse Y, Desmaze C et al. A human homolog of the S. cerevisiae HIR1 and HIR2 transcription repressors cloned from the DiGeorge syndrome critical region. Hum Mol Genet 1995;4:791-799.
    • (1995) Hum Mol Genet , vol.4 , pp. 791-799
    • Lamour, V.1    Le'cluse, Y.2    Desmaze, C.3
  • 41
    • 19144364568 scopus 로고    scopus 로고
    • Human homolog sequences to the Drosophila dishevelled polarity gene are deleted in the DiGeorge syndrome
    • [41] Pizzuti A, Novelli G, Mari A et al. Human homolog sequences to the Drosophila dishevelled polarity gene are deleted in the DiGeorge syndrome. Am J Hum Genet 1996;58:722-729.
    • (1996) Am J Hum Genet , vol.58 , pp. 722-729
    • Pizzuti, A.1    Novelli, G.2    Mari, A.3
  • 42
    • 0028958564 scopus 로고
    • Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity
    • [42] Demczuk S, Aledo R, Zucman M et al. Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Hum Mol Genet 1995:4:551-558.
    • (1995) Hum Mol Genet , vol.4 , pp. 551-558
    • Demczuk, S.1    Aledo, R.2    Zucman, M.3
  • 43
    • 0029065469 scopus 로고
    • Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome
    • [43] Wadey R, Daw S, Taylor C et al. Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. Hum Mol Genet 1995;4:1027-1033.
    • (1995) Hum Mol Genet , vol.4 , pp. 1027-1033
    • Wadey, R.1    Daw, S.2    Taylor, C.3
  • 44
    • 0028998317 scopus 로고
    • Cloning a balanced translocation asociated with DiGeorge syndrome and identification of a disrupted candidate gene
    • [44] Budarf ML, Collins J, Gong W et al. Cloning a balanced translocation asociated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genet 1995;10:269-278.
    • (1995) Nature Genet , vol.10 , pp. 269-278
    • Budarf, M.L.1    Collins, J.2    Gong, W.3
  • 45
    • 0029156177 scopus 로고
    • DiGeorge syndrome and related syndromes associated with 22q11.2 deletions: A review
    • [45] Demczuk S, Aurias A. DiGeorge syndrome and related syndromes associated with 22q11.2 deletions: A review. Ann Genet 1995;38:59-76.
    • (1995) Ann Genet , vol.38 , pp. 59-76
    • Demczuk, S.1    Aurias, A.2
  • 46
    • 0011807662 scopus 로고
    • Multiple anomalies including thymic aplasia associated with monosomy 22
    • [46] Rosenthal M, Bocian M, Krmpotic E. Multiple anomalies including thymic aplasia associated with monosomy 22. Pediatr Res 1972;6:358.
    • (1972) Pediatr Res , vol.6 , pp. 358
    • Rosenthal, M.1    Bocian, M.2    Krmpotic, E.3
  • 48
    • 0026739254 scopus 로고
    • A prospective cytogenetic study of 36 cases of DiGeorge syndrome
    • [48] Wilson DI, Cross IE, Goodship JA et al. A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Med Genet 1992;51:957-963.
    • (1992) Am J Med Genet , vol.51 , pp. 957-963
    • Wilson, D.I.1    Cross, I.E.2    Goodship, J.A.3
  • 49
    • 0026688328 scopus 로고
    • Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
    • [49] Carey AH, Kelley D, Halford S et al. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet 1992;51:964-970.
    • (1992) Am J Hum Genet , vol.51 , pp. 964-970
    • Carey, A.H.1    Kelley, D.2    Halford, S.3
  • 50
    • 0027370619 scopus 로고
    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
    • [50] Driscoll DD, Salvin J, Sellinger B et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet 1993;30:813-817.
    • (1993) J Med Genet , vol.30 , pp. 813-817
    • Driscoll, D.D.1    Salvin, J.2    Sellinger, B.3
  • 51
    • 0029562967 scopus 로고
    • Chromosome engineering in mice
    • [51] Ramirez-Solis R, Liu P, Bradley A. Chromosome engineering in mice. Nature 1995;378:720-724.
    • (1995) Nature , vol.378 , pp. 720-724
    • Ramirez-Solis, R.1    Liu, P.2    Bradley, A.3


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