메뉴 건너뛰기




Volumn 15, Issue 6, 2013, Pages 450-457

Comparison of chromosome analysis and chromosomal microarray analysis: What is the value of chromosome analysis in today's genomic array era?

Author keywords

array CGH; chromosome analysis; chromosome structural rearrangement; developmental disability; FISH; mosaicism

Indexed keywords

GENOMIC DNA;

EID: 84878892869     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.152     Document Type: Article
Times cited : (58)

References (21)
  • 1
    • 77951731249 scopus 로고    scopus 로고
    • Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results
    • Kang SH, Shaw C, Ou Z, et al. Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet A 2010;152A:1111-1126.
    • (2010) Am J Med Genet A , vol.152 A , pp. 1111-1126
    • Kang, S.H.1    Shaw, C.2    Ou, Z.3
  • 2
    • 79952222136 scopus 로고    scopus 로고
    • Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH
    • Neill NJ, Ballif BC, Lamb AN, et al. Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH. Genome Res 2011;21:535-544.
    • (2011) Genome Res , vol.21 , pp. 535-544
    • Neill, N.J.1    Ballif, B.C.2    Lamb, A.N.3
  • 3
    • 34249717942 scopus 로고    scopus 로고
    • Clinical implementation of chromosomal microarray analysis: Summary of 2513 postnatal cases
    • Lu X, Shaw CA, Patel A, et al. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS ONE 2007;2:e327.
    • (2007) PLoS ONE , vol.2
    • Lu, X.1    Shaw, C.A.2    Patel, A.3
  • 4
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-764.
    • (2010) Am J Hum Genet , vol.86 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3
  • 7
    • 79952238471 scopus 로고    scopus 로고
    • Current controversies in prenatal diagnosis 3: Is conventional chromosome analysis necessary in the post-array CGH era?
    • Bui TH, Vetro A, Zuffardi O, Shaffer LG. Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? Prenat Diagn 2011;31:235-243.
    • (2011) Prenat Diagn , vol.31 , pp. 235-243
    • Bui, T.H.1    Vetro, A.2    Zuffardi, O.3    Shaffer, L.G.4
  • 10
    • 70350179748 scopus 로고    scopus 로고
    • Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping
    • El-Hattab AW, Smolarek TA, Walker ME, et al. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet 2009;126:589-602.
    • (2009) Hum Genet , vol.126 , pp. 589-602
    • El-Hattab, A.W.1    Smolarek, T.A.2    Walker, M.E.3
  • 11
    • 78649559271 scopus 로고    scopus 로고
    • Detection of clinically relevant exonic copy-number changes by array CGH
    • Boone PM, Bacino CA, Shaw CA, et al. Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat 2010;31:1326-1342.
    • (2010) Hum Mutat , vol.31 , pp. 1326-1342
    • Boone, P.M.1    Bacino, C.A.2    Shaw, C.A.3
  • 12
    • 84856005830 scopus 로고    scopus 로고
    • Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping
    • Bruno DL, White SM, Ganesamoorthy D, et al. Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. J Med Genet 2011;48:831-839.
    • (2011) J Med Genet , vol.48 , pp. 831-839
    • Bruno, D.L.1    White, S.M.2    Ganesamoorthy, D.3
  • 13
    • 79952490501 scopus 로고    scopus 로고
    • Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform
    • Hoang S, Ahn J, Mann K, et al. Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform. Eur J Med Genet 2011;54:121-129.
    • (2011) Eur J Med Genet , vol.54 , pp. 121-129
    • Hoang, S.1    Ahn, J.2    Mann, K.3
  • 14
    • 77953956556 scopus 로고    scopus 로고
    • Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
    • Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC. Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Mol Cytogenet 2010;3:11.
    • (2010) Mol Cytogenet , vol.3 , pp. 11
    • Neill, N.J.1    Torchia, B.S.2    Bejjani, B.A.3    Shaffer, L.G.4    Ballif, B.C.5
  • 15
    • 77951702768 scopus 로고    scopus 로고
    • Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
    • Conlin LK, Thiel BD, Bonnemann CG, et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet 2010;19:1263-1275.
    • (2010) Hum Mol Genet , vol.19 , pp. 1263-1275
    • Conlin, L.K.1    Thiel, B.D.2    Bonnemann, C.G.3
  • 16
    • 79953321196 scopus 로고    scopus 로고
    • UPD detection using homozygosity profiling with a SNP genotyping microarray
    • Papenhausen P, Schwartz S, Risheg H, et al. UPD detection using homozygosity profiling with a SNP genotyping microarray. Am J Med Genet A 2011;155A:757-768.
    • (2011) Am J Med Genet A , vol.155 A , pp. 757-768
    • Papenhausen, P.1    Schwartz, S.2    Risheg, H.3
  • 17
    • 51449110312 scopus 로고    scopus 로고
    • Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases
    • Shao L, Shaw CA, Lu XY, et al. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A 2008;146A:2242-2251.
    • (2008) Am J Med Genet A , vol.146 A , pp. 2242-2251
    • Shao, L.1    Shaw, C.A.2    Lu, X.Y.3
  • 18
    • 80052916562 scopus 로고    scopus 로고
    • Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
    • Liu P, Erez A, Nagamani SC, et al. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell 2011;146:889-903.
    • (2011) Cell , vol.146 , pp. 889-903
    • Liu, P.1    Erez, A.2    Nagamani, S.C.3
  • 20
    • 69049109727 scopus 로고    scopus 로고
    • Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases
    • Schluth-Bolard C, Delobel B, Sanlaville D, et al. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases. Eur J Med Genet 2009;52:291-296.
    • (2009) Eur J Med Genet , vol.52 , pp. 291-296
    • Schluth-Bolard, C.1    Delobel, B.2    Sanlaville, D.3
  • 21
    • 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. (Pubitemid 21891747)
    • (1991) American Journal of Human Genetics , vol.49 , Issue.5 , pp. 995-1013
    • Warburton, D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.