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Volumn 146, Issue 3, 2005, Pages 382-387

Genetic analyses in two extended families with deletion 22q11 syndrome: Importance of extracardiac manifestations

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLEFT PALATE; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DELETION 22Q11 SYNDROME; DIGEORGE SYNDROME; FACE MALFORMATION; GENETIC ANALYSIS; HUMAN; HYPOCALCEMIA; HYPOPLASIA; INFANT; PRIORITY JOURNAL; VELOCARDIOFACIAL SYNDROME;

EID: 14844316720     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2004.10.038     Document Type: Article
Times cited : (16)

References (34)
  • 2
    • 0026750771 scopus 로고
    • A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
    • D.A. Driscoll, M.L. Budarf, and B.S. Emanuel A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11 Am J Hum Genet 50 1992 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
    • 0027461868 scopus 로고
    • Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization
    • C. Desmaze, P. Scambler, M. Prieur, S. Halford, D. Sidi, and F. Le Deist Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization Hum Genet 90 1993 663 665
    • (1993) Hum Genet , vol.90 , pp. 663-665
    • Desmaze, C.1    Scambler, P.2    Prieur, M.3    Halford, S.4    Sidi, D.5    Le Deist, F.6
  • 5
    • 0027370619 scopus 로고
    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
    • D.A. Driscoll, J. Salvin, B. Sellinger, M.L. Budarf, D.M. McDonald-McGinn, and E.H. Zackai Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis J Med Genet 30 1993 813 817
    • (1993) J Med Genet , vol.30 , pp. 813-817
    • Driscoll, D.A.1    Salvin, J.2    Sellinger, B.3    Budarf, M.L.4    McDonald-Mcginn, D.M.5    Zackai, E.H.6
  • 7
    • 0031291657 scopus 로고    scopus 로고
    • The 22q11.2 deletion: Screening, diagnostic workup, and outcome of results; Report on 181 patients
    • D.M. McDonald-McGinn, D. LaRossa, E. Goldmuntz, K. Sullivan, P. Eicher, and M. Gerdes The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients Genet Test 1 1997 99 108
    • (1997) Genet Test , vol.1 , pp. 99-108
    • McDonald-Mcginn, D.M.1    Larossa, D.2    Goldmuntz, E.3    Sullivan, K.4    Eicher, P.5    Gerdes, M.6
  • 8
    • 0036889598 scopus 로고    scopus 로고
    • Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)
    • E. Perez, and K.E. Sullivan Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes) Curr Opin Pediatr 14 2002 678 683
    • (2002) Curr Opin Pediatr , vol.14 , pp. 678-683
    • Perez, E.1    Sullivan, K.E.2
  • 9
    • 0035196538 scopus 로고    scopus 로고
    • 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes
    • B.F. Cuneo 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes Curr Opin Pediatr 13 2001 465 472
    • (2001) Curr Opin Pediatr , vol.13 , pp. 465-472
    • Cuneo, B.F.1
  • 11
    • 0038419517 scopus 로고    scopus 로고
    • A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
    • L.D. Botto, K. May, P.M. Fernhoff, A. Correa, K. Coleman, and S.A. Rasmussen A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population Pediatrics 112 2003 101 107
    • (2003) Pediatrics , vol.112 , pp. 101-107
    • Botto, L.D.1    May, K.2    Fernhoff, P.M.3    Correa, A.4    Coleman, K.5    Rasmussen, S.A.6
  • 12
    • 16944364802 scopus 로고    scopus 로고
    • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
    • A.K. Ryan, J.A. Goodship, D.I. Wilson, N. Philip, A. Levy, and H. Seidel Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study J Med Genet 34 1997 798 804
    • (1997) J Med Genet , vol.34 , pp. 798-804
    • Ryan, A.K.1    Goodship, J.A.2    Wilson, D.I.3    Philip, N.4    Levy, A.5    Seidel, H.6
  • 14
    • 0035651517 scopus 로고    scopus 로고
    • Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age
    • D.B. McElhinney, D. McDonald-McGinn, E.H. Zackai, and E. Goldmuntz Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age Pediatrics 108 2001 E104
    • (2001) Pediatrics , vol.108 , pp. 104
    • McElhinney, D.B.1    McDonald-Mcginn, D.2    Zackai, E.H.3    Goldmuntz, E.4
  • 15
    • 0032871644 scopus 로고    scopus 로고
    • Phenotype of adults with the 22q11 deletion syndrome: A review
    • E. Cohen, E.W. Chow, R. Weksberg, and A.S. Bassett Phenotype of adults with the 22q11 deletion syndrome: a review Am J Med Genet 86 1999 359 365
    • (1999) Am J Med Genet , vol.86 , pp. 359-365
    • Cohen, E.1    Chow, E.W.2    Weksberg, R.3    Bassett, A.S.4
  • 17
    • 0042632658 scopus 로고    scopus 로고
    • Spectrum of clinical variability in familial deletion 22q11.2: From full manifestation to extremely mild clinical anomalies
    • M.C. Digilio, A. Angioni, M. De Santis, A. Lombardo, A. Giannotti, and B. Dallapiccola Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies Clin Genet 63 2003 308 313
    • (2003) Clin Genet , vol.63 , pp. 308-313
    • Digilio, M.C.1    Angioni, A.2    De Santis, M.3    Lombardo, A.4    Giannotti, A.5    Dallapiccola, B.6
  • 18
    • 0032609084 scopus 로고    scopus 로고
    • Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome: The Leuven experience
    • G. Vantrappen, K. Devriendt, A. Swillen, N. Rommel, A. Vogels, and B. Eyskens Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome: the Leuven experience Genet Couns 10 1999 3 9
    • (1999) Genet Couns , vol.10 , pp. 3-9
    • Vantrappen, G.1    Devriendt, K.2    Swillen, A.3    Rommel, N.4    Vogels, A.5    Eyskens, B.6
  • 19
    • 0019352243 scopus 로고
    • The velo-cardio-facial syndrome: A clinical and genetic analysis
    • R.J. Shprintzen, R.B. Goldberg, D. Young, and L. Wolford The velo-cardio-facial syndrome: a clinical and genetic analysis Pediatrics 67 1981 167 172
    • (1981) Pediatrics , vol.67 , pp. 167-172
    • Shprintzen, R.J.1    Goldberg, R.B.2    Young, D.3    Wolford, L.4
  • 20
    • 0014384341 scopus 로고
    • Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism
    • W.B. Strong Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism J Pediatr 73 1968 882 888
    • (1968) J Pediatr , vol.73 , pp. 882-888
    • Strong, W.B.1
  • 21
    • 0019367121 scopus 로고
    • Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome
    • M. Raatikka, J. Rapola, L. Tuuteri, I. Louhimo, and E. Savilahti Familial third and fourth pharyngeal pouch syndrome with truncus arteriosus: DiGeorge syndrome Pediatrics 67 1981 173 175
    • (1981) Pediatrics , vol.67 , pp. 173-175
    • Raatikka, M.1    Rapola, J.2    Tuuteri, L.3    Louhimo, I.4    Savilahti, E.5
  • 23
    • 0030444261 scopus 로고    scopus 로고
    • Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations
    • J.B. Ravnan, E. Chen, M. Golabi, and R.V. Lebo Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations Am J Med Genet 66 1996 250 256
    • (1996) Am J Med Genet , vol.66 , pp. 250-256
    • Ravnan, J.B.1    Chen, E.2    Golabi, M.3    Lebo, R.V.4
  • 24
    • 0027296236 scopus 로고
    • Variable phenotypes in velocardiofacial syndrome with chromosomal deletion
    • B. Motzkin, R. Marion, R. Goldberg, R. Shprintzen, and P. Saenger Variable phenotypes in velocardiofacial syndrome with chromosomal deletion J Pediatr 123 1993 406 410
    • (1993) J Pediatr , vol.123 , pp. 406-410
    • Motzkin, B.1    Marion, R.2    Goldberg, R.3    Shprintzen, R.4    Saenger, P.5
  • 25
    • 0035871919 scopus 로고    scopus 로고
    • Craniofacial anthropometric analysis in patients with 22q11 microdeletion
    • L. Guyot, M. Dubuc, J. Pujol, O. Dutour, and N. Philip Craniofacial anthropometric analysis in patients with 22q11 microdeletion Am J Med Genet 100 2001 1 8
    • (2001) Am J Med Genet , vol.100 , pp. 1-8
    • Guyot, L.1    Dubuc, M.2    Pujol, J.3    Dutour, O.4    Philip, N.5
  • 27
    • 0029849619 scopus 로고    scopus 로고
    • Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: Report of five families with a review of the literature
    • J. Leana-Cox, S. Pangkanon, K.R. Eanet, M.S. Curtin, and E.A. Wulfsberg 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 1996 309 316
    • (1996) Am J Med Genet , vol.65 , pp. 309-316
    • Leana-Cox, J.1    Pangkanon, S.2    Eanet, K.R.3    Curtin, M.S.4    Wulfsberg, E.A.5
  • 28
    • 0017821181 scopus 로고
    • A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome
    • R.J. Shprintzen, R.B. Goldberg, M.L. Lewin, E.J. Sidoti, M.D. Berkman, and R.V. Argamaso A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome Cleft Palate J 15 1978 56 62
    • (1978) Cleft Palate J , vol.15 , pp. 56-62
    • Shprintzen, R.J.1    Goldberg, R.B.2    Lewin, M.L.3    Sidoti, E.J.4    Berkman, M.D.5    Argamaso, R.V.6
  • 29
    • 0028895193 scopus 로고
    • Family studies in chromosome 22q11 deletion: Further demonstration of phenotypic heterogeneity
    • D. De Silva, P. Duffty, P. Booth, I. Auchterlonie, N. Morrison, and J.C.S. Dean Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity Clin Dysmorphol 4 1995 294 303
    • (1995) Clin Dysmorphol , vol.4 , pp. 294-303
    • De Silva, D.1    Duffty, P.2    Booth, P.3    Auchterlonie, I.4    Morrison, N.5    Dean, J.C.S.6
  • 31
    • 0031046762 scopus 로고    scopus 로고
    • Evolution of latent hypoparathyroidism in familial 22q11 deletion syndrome
    • B.F. Cuneo, D.A. Driscoll, S.S. Gidding, and C.B. Langman Evolution of latent hypoparathyroidism in familial 22q11 deletion syndrome Am J Med Genet 69 1997 50 55
    • (1997) Am J Med Genet , vol.69 , pp. 50-55
    • Cuneo, B.F.1    Driscoll, D.A.2    Gidding, S.S.3    Langman, C.B.4
  • 32
    • 0029819869 scopus 로고    scopus 로고
    • Chromosome 22q11 monosomy and the genetic basis of congenital heart disease
    • M.C. Johnson, M.S. Watson, and A.W. Strauss Chromosome 22q11 monosomy and the genetic basis of congenital heart disease J Pediatr 129 1996 1 3
    • (1996) J Pediatr , vol.129 , pp. 1-3
    • Johnson, M.C.1    Watson, M.S.2    Strauss, A.W.3
  • 33
    • 0035746683 scopus 로고    scopus 로고
    • Prenatal diagnosis of the 22q11.2 deletion syndrome
    • D.A. Driscoll Prenatal diagnosis of the 22q11.2 deletion syndrome Genet Med 3 2001 14 18
    • (2001) Genet Med , vol.3 , pp. 14-18
    • Driscoll, D.A.1
  • 34
    • 0043160216 scopus 로고    scopus 로고
    • Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect
    • W.T. Mahle, J. Crisalli, K. Coleman, R.M. Campbell, V.K. Tam, and R.N. Vincent Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect Ann Thorac Surg 76 2003 567 571
    • (2003) Ann Thorac Surg , vol.76 , pp. 567-571
    • Mahle, W.T.1    Crisalli, J.2    Coleman, K.3    Campbell, R.M.4    Tam, V.K.5    Vincent, R.N.6


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