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Volumn 51, Issue 4, 1997, Pages 246-249

Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father

Author keywords

Chromosome 22; DiGeorge sequence; Sprintzen syndrome; Velo cardio facial syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22Q; DIGEORGE SYNDROME; FATHER; FEMALE; GENE DELETION; HEART DISEASE; HUMAN; HYPOPARATHYROIDISM; HYPOPLASIA; MALE; PRIORITY JOURNAL; SIBLING; THYMUS;

EID: 0030959637     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02463.x     Document Type: Article
Times cited : (11)

References (20)
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  • 2
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    • A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
    • 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
  • 5
    • 0027370619 scopus 로고
    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
    • Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS. 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.A.1    Salvin, J.2    Sellinger, B.3    Budarf, M.L.4    McDonald-McGinn, D.M.5    Zackai, E.H.6    Emanuel, B.S.7
  • 6
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    • Thymic aplasia in siblings
    • Abstract
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  • 9
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    • Monozygotic twins with chromosome 22q11 deletion and discordant phenotype
    • Goodship J, Cross J, Scambler P, Burn J. Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genet 1995: 32: 746-748.
    • (1995) J Med Genet , vol.32 , pp. 746-748
    • Goodship, J.1    Cross, J.2    Scambler, P.3    Burn, J.4
  • 10
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    • DiGeorge syndrome: An historical review of clinical and cytogenetic features
    • Greenberg F. DiGeorge syndrome: an historical review of clinical and cytogenetic features. J Med Genet 1993: 30: 803-806.
    • (1993) J Med Genet , vol.30 , pp. 803-806
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  • 13
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    • CATCH 22 sans cardiac anomaly, thymic hypoplasia, cleft palate and hypocalcemia: CAtch 22. A common result of 22q11 deficiency?
    • Lipson A, Emanuel B, Colley P, Fagan K. CATCH 22 sans cardiac anomaly, thymic hypoplasia, cleft palate and hypocalcemia: cAtch 22. A common result of 22q11 deficiency? J Med Genet 1994: 31: 741.
    • (1994) J Med Genet , vol.31 , pp. 741
    • Lipson, A.1    Emanuel, B.2    Colley, P.3    Fagan, K.4
  • 20
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    • Deletions within chromosome 22q11 in familial congenital heart disease
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    • 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.