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Volumn 12, Issue 2, 2003, Pages 129-131

Multicolor chromosomal bar coding characterizes a de novo interstitial deletion (5)(q33.3q35.2) in a child with multiple congenital malformations

Author keywords

Chromosome 5q ; Complex heart defect; FISH; hCsx; YAC clones

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 5Q; CHROMOSOME BANDING PATTERN; CLUBFOOT; CONGENITAL HEART MALFORMATION; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HEART SURGERY; HUMAN; INFANT; MALE; MULTIPLE MALFORMATION SYNDROME; PRIORITY JOURNAL; THUMB MALFORMATION;

EID: 0037542622     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200304000-00011     Document Type: Article
Times cited : (6)

References (12)
  • 1
    • 0344563535 scopus 로고    scopus 로고
    • Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35)
    • Gibbons B, Tan SY, Kee SK, Quaife R, Lim ST (1999). Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35). Am J Med Genet 86:289-293.
    • (1999) Am J Med Genet , vol.86 , pp. 289-293
    • Gibbons, B.1    Tan, S.Y.2    Kee, S.K.3    Quaife, R.4    Lim, S.T.5
  • 4
    • 0027165043 scopus 로고
    • A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.1qter)
    • Kleczkowska A, Fryns JP, van den Berghe H (1993). A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.1qter). Ann Genet 36:126-128.
    • (1993) Ann Genet , vol.36 , pp. 126-128
    • Kleczkowska, A.1    Fryns, J.P.2    Van Den Berghe, H.3
  • 6
    • 0031049183 scopus 로고    scopus 로고
    • Interstitial deletion of long arm of chromsome no. 5 with growth hormone deficiency - An emerging syndrome?
    • Krishna J, Myers TL, Bougeois MJ, Tonk V (1997). Interstitial deletion of long arm of chromsome no. 5 with growth hormone deficiency - an emerging syndrome? Clin Genet 51:48-51.
    • (1997) Clin Genet , vol.51 , pp. 48-51
    • Krishna, J.1    Myers, T.L.2    Bougeois, M.J.3    Tonk, V.4
  • 12
    • 0029669183 scopus 로고    scopus 로고
    • Molecular cloning, chromosomal mapping, and characterization of the human cardiac specific homeobox gene hCsx
    • Turbay D, Wechsler SB, Blanchard KM, Izumo S (1996). Molecular cloning, chromosomal mapping, and characterization of the human cardiac specific homeobox gene hCsx. Mol Med 2:86-96.
    • (1996) Mol Med , vol.2 , pp. 86-96
    • Turbay, D.1    Wechsler, S.B.2    Blanchard, K.M.3    Izumo, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.