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Volumn 12, Issue 5, 2010, Pages 725-729

Large clinically consequential imbalances detected at the breakpoints of apparently balanced and inherited chromosome rearrangements

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 1Q; CHROMOSOME 5Q; CHROMOSOME 9Q; CHROMOSOME ABERRATION; CHROMOSOME BANDING PATTERN; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; HUMAN; MICROARRAY ANALYSIS;

EID: 77956861949     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2010.090234     Document Type: Article
Times cited : (6)

References (12)
  • 1
    • 4444331256 scopus 로고    scopus 로고
    • Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity
    • Patsalis PC, Evangelidou P, Charalambous S, Sismani C: Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity. Eur J Hum Genet 2004, 12:647-653
    • (2004) Eur J Hum Genet , vol.12 , pp. 647-653
    • Patsalis, P.C.1    Evangelidou, P.2    Charalambous, S.3    Sismani, C.4
  • 3
    • 1942476904 scopus 로고    scopus 로고
    • Detection of deletions in de novo "balanced" chromosome rearrangements: Further evidence for their role in phenotypic abnormalities
    • Astbury C, Christ LA, Aughton DJ, Cassidy SB, Kumar A, Eichler EE, Schwartz S: Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities. Genet Med 2004, 6:81-89
    • (2004) Genet Med , vol.6 , pp. 81-89
    • Astbury, C.1    Christ, L.A.2    Aughton, D.J.3    Cassidy, S.B.4    Kumar, A.5    Eichler, E.E.6    Schwartz, S.7
  • 8
    • 0026574505 scopus 로고
    • White Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding
    • Jacobs PA, Browne C, Gregson N, Joyce C: White Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 1992, 29:103-108
    • (1992) J Med Genet , vol.29 , pp. 103-108
    • Jacobs, P.A.1    Browne, C.2    Gregson, N.3    Joyce, C.4
  • 9
    • 0025941775 scopus 로고
    • De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
    • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 1991, 49:995-1013
    • (1991) Am J Hum Genet , vol.49 , pp. 995-1013
    • Warburton, D.1
  • 10
    • 0027219422 scopus 로고
    • Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders
    • Tommerup N: Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders J Med Genet 1993, 30:713-727
    • (1993) J Med Genet , vol.30 , pp. 713-727
    • Tommerup, N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.