메뉴 건너뛰기




Volumn 116, Issue 2, 2003, Pages 129-135

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects

Author keywords

22q11.2 deletion; Congenital heart defects; Goldenhar syndrome; Oculo auriculo vertebral spectrum

Indexed keywords

AORTA ARCH; ARTICLE; AUDITORY CANAL; BASILAR IMPRESSION; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DEXTROCARDIA; DUCTUS ARTERIOSUS; FACE DYSMORPHIA; FACIAL NERVE PARALYSIS; FALLOT TETRALOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GOLDENHAR SYNDROME; GREAT VESSELS TRANSPOSITION; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; MALE; MANDIBLE; MENTAL DEVELOPMENT; MICROTIA; OPHTHALMOLOGY; PHENOTYPE; PRIORITY JOURNAL; PULMONARY ARTERY; PULMONARY VALVE STENOSIS; RADIOGRAPHY; SITUS INVERSUS; TURKEY (REPUBLIC);

EID: 0037438595     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10832     Document Type: Article
Times cited : (62)

References (36)
  • 2
    • 0032756249 scopus 로고    scopus 로고
    • A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: No evidence for deletions in non-syndromic patients
    • Borgmann S, Luhmer I, Arslan-Kirchner M, Kallfelz HC, Schmidtke J. 1999. A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: No evidence for deletions in non-syndromic patients. Eur J Pediatr 158:958-963.
    • (1999) Eur J Pediatr , vol.158 , pp. 958-963
    • Borgmann, S.1    Luhmer, I.2    Arslan-Kirchner, M.3    Kallfelz, H.C.4    Schmidtke, J.5
  • 4
    • 0024407461 scopus 로고
    • Oculoauriculovertebral spectrum: An updated critique
    • Cohen MM Jr, Rollnick BR, Kaye CI. 1989. Oculoauriculovertebral spectrum: An updated critique. Cleft Palate J 26:276-286.
    • (1989) Cleft Palate J , vol.26 , pp. 276-286
    • Cohen M.M., Jr.1    Rollnick, B.R.2    Kaye, C.I.3
  • 8
    • 0030037804 scopus 로고    scopus 로고
    • The incidence of a deletion in chromosome 22q11 in sporadic and familial conotruncal heart disease
    • Devriendt K, Eyskens B, Swillen A, Dumoulin M, Gewillig M, Fryns JP. 1996. The incidence of a deletion in chromosome 22q11 in sporadic and familial conotruncal heart disease. Eur J Pediatr 155:721.
    • (1996) Eur J Pediatr , vol.155 , pp. 721
    • Devriendt, K.1    Eyskens, B.2    Swillen, A.3    Dumoulin, M.4    Gewillig, M.5    Fryns, J.P.6
  • 11
    • 0026750771 scopus 로고
    • A genetic etiology for Di-George syndrome: Consistent deletions and microdeletions of 22q11
    • Driscoll DA, Budarf ML, Emanuel BS. 1992. A genetic etiology for Di-George syndrome: Consistent deletions and microdeletions of 22q11. Am J Hum Genet 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
  • 12
    • 0033841998 scopus 로고    scopus 로고
    • The 22q11.2 deletion syndrome: More answers but more questions
    • Fernhoff PM. 2000. The 22q11.2 deletion syndrome: More answers but more questions. J Pediatr 137:145-147.
    • (2000) J Pediatr , vol.137 , pp. 145-147
    • Fernhoff, P.M.1
  • 21
    • 0031902310 scopus 로고    scopus 로고
    • Report of a new patient with transposition of the great arteries with deletion of 22q11.2
    • Marble M, Morava E, Lopez R, Pierce M, Pierce R. 1998. Report of a new patient with transposition of the great arteries with deletion of 22q11.2. Am J Med Genet 78:317-318.
    • (1998) Am J Med Genet , vol.78 , pp. 317-318
    • Marble, M.1    Morava, E.2    Lopez, R.3    Pierce, M.4    Pierce, R.5
  • 22
    • 0033041096 scopus 로고    scopus 로고
    • Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del22q11
    • Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B. 1999. Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del22q11. Genet Couns 10:25-33.
    • (1999) Genet Couns , vol.10 , pp. 25-33
    • Marino, B.1    Digilio, M.C.2    Toscano, A.3    Giannotti, A.4    Dallapiccola, B.5
  • 26
    • 0030238555 scopus 로고    scopus 로고
    • Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal anomaly face syndrome
    • Momma K, Kondo C, Matsuoka R, Takao A. 1996. Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal anomaly face syndrome. Am J Cardiol 78:591-594.
    • (1996) Am J Cardiol , vol.78 , pp. 591-594
    • Momma, K.1    Kondo, C.2    Matsuoka, R.3    Takao, A.4
  • 27
    • 0033050757 scopus 로고    scopus 로고
    • Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22)
    • Momma K, Matsuoka R, Takao A. 1999. Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22). Pediatr Cardiol 20:97-102.
    • (1999) Pediatr Cardiol , vol.20 , pp. 97-102
    • Momma, K.1    Matsuoka, R.2    Takao, A.3
  • 28
    • 0022946347 scopus 로고
    • Developmental field theory and observations-accidental progress?
    • Opitz J. 1986. Developmental field theory and observations-accidental progress? Am J Med Genet 2 (Suppl): 1-9.
    • (1986) Am J Med Genet , vol.2 , Issue.SUPPL. , pp. 1-9
    • Opitz, J.1
  • 29
    • 33646215210 scopus 로고
    • Constitutional analysis
    • Rooney DE, Czepulkowski BH, editors. Practical approach series. Oxford: Oxford University Press
    • Rooney DE, Czepulkowski BH. 1992. Constitutional analysis. In: Rooney DE, Czepulkowski BH, editors. Human Cytogenetics. Practical approach series. Oxford: Oxford University Press. p 37-46.
    • (1992) Human Cytogenetics , pp. 37-46
    • Rooney, D.E.1    Czepulkowski, B.H.2
  • 31
    • 0032898872 scopus 로고    scopus 로고
    • Developmental and genetic aspects of congenital heart disease
    • Srivastava D. 1999. Developmental and genetic aspects of congenital heart disease. Curr Opin Cardiol 14:263-268.
    • (1999) Curr Opin Cardiol , vol.14 , pp. 263-268
    • Srivastava, D.1
  • 32
    • 0031132215 scopus 로고    scopus 로고
    • Chromosome 22q11 deletion syndrome: An update and review for the primary pediatrician
    • Thomas JA, Graham JM. 1997. Chromosome 22q11 deletion syndrome: An update and review for the primary pediatrician. Clin Pediatr 36:253-266.
    • (1997) Clin Pediatr , vol.36 , pp. 253-266
    • Thomas, J.A.1    Graham, J.M.2
  • 34
    • 0029817469 scopus 로고    scopus 로고
    • Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: A three-year prospective study
    • Webber SA, Hatchwell E, Barber JCK, Daubeney PEF, Crolla JA, Salmon AP, Keeton BR, Temple IK, Dennis NR. 1996. Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: A three-year prospective study. J Pediatr 129:26-32.
    • (1996) J Pediatr , vol.129 , pp. 26-32
    • Webber, S.A.1    Hatchwell, E.2    Barber, J.C.K.3    Daubeney, P.E.F.4    Crolla, J.A.5    Salmon, A.P.6    Keeton, B.R.7    Temple, I.K.8    Dennis, N.R.9
  • 35
    • 0026725876 scopus 로고
    • Deletions within chromosome 22q11 in familial congenital heart disease
    • Wilson DI, Goodship JA, Burn J, Cross IE, Scambler PJ. 1992. Deletions within chromosome 22q11 in familial congenital heart disease. Lancet 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.