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Untersuchte Arbeit:
Seite: 20, Zeilen: 1 ff.
Quelle: Edelmann Hirschhorn 2009
Seite(n): 159, Zeilen: 159: left col. 22 ff.
[This type of] array was initially used for clinical applications in postnatal specimens but has also been implemented for prenatal specimens with an abnormal ultrasound finding or for general screening purposes.14-16 A whole genome or tiling path array offers full genome coverage with a resolution that is dependent on the spacing of the probes. For clinical testing the resolution generally involves a spacing of 50 kb to 1 Mb between adjacent probes on the array often with additional coverage at the subtelomeric regions.17-19 The enhanced coverage of whole genome arrays identifies an additional 5% of abnormalities when compared to a targeted array.19,20 For research purposes, very high density oligonucleotide whole genome arrays and region specific custom arrays have been instrumental in defining new syndromes, detecting target gene deletions and characterizing breakpoint regions.3,21-24

14 Le Caignec C, Boceno M, Saugier-Veber P et al: Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J Med Genet 2005; 42: 121-128.

15 Sahoo T, Cheung SW, Ward P et al: Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med 2006; 8: 719-727.

16 Kitsiou-Tzeli S, Sismani C, Karkaletsi M et al: Prenatal diagnosis of a de novo partial trisomy 10p12.1-12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH. Prenat Diagn 2008; 28: 770-772.

17 Veltman JA, de Vries BB: Diagnostic genome profiling: unbiased whole genome or targeted analysis? J Mol Diagn 2006; 8: 534-537; discussion 537-539.

18 Toruner GA, Streck DL, Schwalb MN, Dermody JJ: An oligonucleotide based array-CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardation. Am J Med Genet A 2007; 143A: 824-829.

19 Baldwin EL, Lee JY, Blake DM et al: Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet Med 2008; 10: 415-429.

20 Veltman JA, de Vries BB: Whole-genome array comparative genome hybridization: the preferred diagnostic choice in postnatal clinical cytogenetics. J Mol Diagn 2007; 9: 277.

21 Selzer RR, Richmond TA, Pofahl NJ et al: Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosomes Cancer 2005; 44: 305-319.

22 Urban AE, Korbel JO, Selzer R et al: High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays. Proc Natl Acad Sci U S A 2006; 103: 4534-4539.

23 Wong LJ, Dimmock D, Geraghty MT et al: Utility of oligonucleotide arraybased comparative genomic hybridization for detection of target gene deletions. Clin Chem 2008; 54: 1141-1148.

24 Balikova I, Lehesjoki AE, de Ravel TJ et al: Deletions

This type of array was initially used for clinical applications in postnatal specimens but has also been implemented for prenatal specimens with an abnormal ultrasound finding or for general screening purposes.20,21 A whole genome or tiling path array offers full genome coverage with a resolution that is dependent on the spacing of the probes. For clinical testing the resolution generally involves a spacing of 50 kb to 1 Mb between adjacent probes on the array often with additional coverage at the subtelomeric regions.22–24 The enhanced coverage of whole genome arrays identifies an additional 5% of abnormalities when compared to a targeted array.24–25 For research purposes, very high density oligonucleotide whole genome arrays and region-specific custom arrays have been instrumental in defining new syndromes and characterizing breakpoint regions.26,27

20. Le Caignec, C. et al. (2005. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J. Med. Genet. 42: 121–128.

21. Sahoo, T. et al. 2006. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet. Med. 8: 719–727.

20. Le Caignec, C. et al. (2005. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J. Med. Genet. 42: 121–128.

21. Sahoo, T. et al. 2006. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet. Med. 8: 719–727.

22. Veltman, J.A. & B.B. de Vries. 2006. Diagnostic genome profiling: Unbiased whole genome or targeted analysis? J. Mol. Diagn. 8: 534–537; discussion 537–539.

23. Toruner, G.A. et al. 2007. An oligonucleotide based array-CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardation. Am. J. Med. Genet. A 143A: 824–829.

24. Baldwin, E.L. et al. 2008. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet. Med. 10: 415–429.

25. Veltman, J.A. & B.B. de Vries. 2007. Whole-genome array comparative genome hybridization: The preferred diagnostic choice in postnatal clinical cytogenetics. J. Mol. Diagn. 9: 277.

26. Selzer, R.R. et al. 2005. Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosomes Cancer 44: 305–319.

27. Urban, A.E. et al. 2006. High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays. Proc. Natl. Acad. Sci. USA 103: 4534–4539.

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