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Volumn 155, Issue 7, 2011, Pages 1605-1615

Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization

Author keywords

Array comparative genomic hybridization (aCGH); Chromosomal structural abnormalities; Genomic imbalances; Prenatal diagnosis

Indexed keywords

GENOMIC DNA;

EID: 79959518654     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34043     Document Type: Article
Times cited : (24)

References (27)
  • 1
    • 40749147287 scopus 로고    scopus 로고
    • Mechanisms and consequences of small supernumerary marker chromosomes: From Barbara McClintock to modern genetic-counseling issues
    • Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH. 2008. Mechanisms and consequences of small supernumerary marker chromosomes: From Barbara McClintock to modern genetic-counseling issues. Am J Hum Genet 82: 398-410.
    • (2008) Am J Hum Genet , vol.82 , pp. 398-410
    • Baldwin, E.L.1    May, L.F.2    Justice, A.N.3    Martin, C.L.4    Ledbetter, D.H.5
  • 2
    • 23744487028 scopus 로고    scopus 로고
    • Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
    • Barber JCK. 2005. Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 42: 609-629.
    • (2005) J Med Genet , vol.42 , pp. 609-629
    • Barber, J.C.K.1
  • 4
    • 31944439349 scopus 로고    scopus 로고
    • Characterization of mosaic supernumerary ring chromosomes by array-CGH: Segmental aneusomy for proximal 4q in a child with tall stature and obesity
    • Bonnet C, Zix C, Grégoire MJ, Brochet K, Duc M, Rousselet F, Philippe C, Jonveaux P. 2006. Characterization of mosaic supernumerary ring chromosomes by array-CGH: Segmental aneusomy for proximal 4q in a child with tall stature and obesity. Am J Med Genet Part A 140A: 233-237.
    • (2006) Am J Med Genet Part A , vol.140 A , pp. 233-237
    • Bonnet, C.1    Zix, C.2    Grégoire, M.J.3    Brochet, K.4    Duc, M.5    Rousselet, F.6    Philippe, C.7    Jonveaux, P.8
  • 5
    • 44349180759 scopus 로고    scopus 로고
    • Differing mechanisms of meiotic segregation in spermatozoa from three carriers of a pericentric inversion of chromosome 8
    • Caer E, Perrin A, Douet-Guilbert N, Amice V, De Braekeleer M, Morel F. 2008. Differing mechanisms of meiotic segregation in spermatozoa from three carriers of a pericentric inversion of chromosome 8. Fertil Steril 89: 1637-1640.
    • (2008) Fertil Steril , vol.89 , pp. 1637-1640
    • Caer, E.1    Perrin, A.2    Douet-Guilbert, N.3    Amice, V.4    De Braekeleer, M.5    Morel, F.6
  • 9
    • 72149094033 scopus 로고    scopus 로고
    • Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray
    • Coppinger J, Alliman S, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. 2009. Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray. Prenat Diagn 29: 1156-1166.
    • (2009) Prenat Diagn , vol.29 , pp. 1156-1166
    • Coppinger, J.1    Alliman, S.2    Lamb, A.N.3    Torchia, B.S.4    Bejjani, B.A.5    Shaffer, L.G.6
  • 12
    • 59449095097 scopus 로고    scopus 로고
    • High-resolution array genomic hybridization in prenatal diagnosis
    • Friedman JM. 2009. High-resolution array genomic hybridization in prenatal diagnosis. Prenat Diagn 29: 20-28.
    • (2009) Prenat Diagn , vol.29 , pp. 20-28
    • Friedman, J.M.1
  • 15
    • 33845235005 scopus 로고    scopus 로고
    • Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitroretinopathy in a patient with a complex chromosome rearrangement
    • Li P, Zhang H, Huff S, Nimmakayalu M, Qumsiyeh M, Yu JW, Szekely A, Xu T, Pober BR. 2006. Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitroretinopathy in a patient with a complex chromosome rearrangement. Am J Med Genet Part A 140A: 2721-2729.
    • (2006) Am J Med Genet Part A , vol.140 A , pp. 2721-2729
    • Li, P.1    Zhang, H.2    Huff, S.3    Nimmakayalu, M.4    Qumsiyeh, M.5    Yu, J.W.6    Szekely, A.7    Xu, T.8    Pober, B.R.9
  • 18
    • 71949122225 scopus 로고    scopus 로고
    • Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature
    • Rossi MR, DiMaio M, Kaymakcalan H, Xiang B, Lu K, Mahoney MJ, Seashore G, Li P. 2009. Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature. Am J Med Genet Part A 149A: 2788-2794.
    • (2009) Am J Med Genet Part A , vol.149 A , pp. 2788-2794
    • Rossi, M.R.1    DiMaio, M.2    Kaymakcalan, H.3    Xiang, B.4    Lu, K.5    Mahoney, M.J.6    Seashore, G.7    Li, P.8
  • 19
    • 70349656642 scopus 로고    scopus 로고
    • U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements
    • Rowe LR, Lee JY, Rector L, Kaminsky EB, Brothman AR, Martin CL, South ST. 2009. U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements. J Med Genet 46: 694-702.
    • (2009) J Med Genet , vol.46 , pp. 694-702
    • Rowe, L.R.1    Lee, J.Y.2    Rector, L.3    Kaminsky, E.B.4    Brothman, A.R.5    Martin, C.L.6    South, S.T.7
  • 20
    • 34548699104 scopus 로고    scopus 로고
    • ACMG Standards and Guidelines: Microarray analysis for constitutional cytogenetic abnormalities
    • A working group of the laboratory quality assurance committee of the American College of Medical Genetics.
    • Shaffer LG, Beaudet AL, Brothman AR, Hirsch B, Levy B, Martin CL, Mascarello JT, Rao KW. A working group of the laboratory quality assurance committee of the American College of Medical Genetics. 2007. ACMG Standards and Guidelines: Microarray analysis for constitutional cytogenetic abnormalities. Genet Med 9: 654-662.
    • (2007) Genet Med , vol.9 , pp. 654-662
    • Shaffer, L.G.1    Beaudet, A.L.2    Brothman, A.R.3    Hirsch, B.4    Levy, B.5    Martin, C.L.6    Mascarello, J.T.7    Rao, K.W.8
  • 24
    • 49649099543 scopus 로고    scopus 로고
    • Analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay
    • Xiang B, Li A, Valentin D, Novak N, Zhao HY, Li P. 2008. Analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. Am J Med Genet Part A 146A: 1942-1954.
    • (2008) Am J Med Genet Part A , vol.146 A , pp. 1942-1954
    • Xiang, B.1    Li, A.2    Valentin, D.3    Novak, N.4    Zhao, H.Y.5    Li, P.6
  • 27


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.