메뉴 건너뛰기




Volumn 18, Issue 2, 2006, Pages 185-191

Comparative genomic hybridization and prenatal diagnosis

Author keywords

Aneuploidy; Chromosomal imbalance; Microarray; Prenatal diagnosis

Indexed keywords

DNA; DNA FRAGMENT; OLIGONUCLEOTIDE;

EID: 33646521074     PISSN: 1040872X     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gco.0000192986.22718.cc     Document Type: Review
Times cited : (55)

References (56)
  • 1
    • 17344371740 scopus 로고    scopus 로고
    • High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
    • Pinkel D, Segraves R, Sudar D, et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998; 20:207-211.
    • (1998) Nat Genet , vol.20 , pp. 207-211
    • Pinkel, D.1    Segraves, R.2    Sudar, D.3
  • 2
    • 0026495364 scopus 로고
    • Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
    • Kallioniemi A, Kallioniemi OP, Sudar D, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992; 258:818-821.
    • (1992) Science , vol.258 , pp. 818-821
    • Kallioniemi, A.1    Kallioniemi, O.P.2    Sudar, D.3
  • 3
    • 23744491866 scopus 로고    scopus 로고
    • Development and validation of a CGH microarray for clinical cytogenetic diagnosis
    • Cheung SW, Shaw CA, Yu W, et al. Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med 2005; 7:422-432. This paper describes the development and validation of a targeted CGH microarray for clinical diagnosis containing clones that detect aneuploidy, over 40 microdeletion and duplicaiton syndromes and subtelomeric deletions. The sensitivity and specificity were 96.7% and 99.1% respectively.
    • (2005) Genet Med , vol.7 , pp. 422-432
    • Cheung, S.W.1    Shaw, C.A.2    Yu, W.3
  • 4
    • 16344393207 scopus 로고    scopus 로고
    • Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more?
    • Bejjani BA, Saleki R, Ballif BC, et al. Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A 2005; 134:259-267. This paper describes development, validation and results obtained with a targeted CGH microarray for clinical diagnosis, also containing clones that detect aneuploidy, known microdeletion and duplication syndromes and subtelomeric deletions.
    • (2005) Am J Med Genet A , vol.134 , pp. 259-267
    • Bejjani, B.A.1    Saleki, R.2    Ballif, B.C.3
  • 5
    • 33645778232 scopus 로고    scopus 로고
    • Prenatal detection of unbalanced chromosomal rearrangements by array-CGH
    • published online September 30, 2005; doi:10.1136/jmg.2005.037648
    • Rickman L, Fiegler H, Shaw-Smith C et al. Prenatal detection of unbalanced chromosomal rearrangements by array-CGH. J Med Genet 2005; published online September 30, 2005; doi:10.1136/jmg.2005.037648. This is the first study on the use of CGH microarray for prenatal diagnosis, showing concordance with karyotype in 29/30 samples that were tested with a targeted diagnostic array and in 22/30 that were tested with a 1 Mb genomewide array.
    • (2005) J Med Genet
    • Rickman, L.1    Fiegler, H.2    Shaw-Smith, C.3
  • 6
    • 11144356173 scopus 로고    scopus 로고
    • Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
    • Shaw-Smith C, Redon R, Rickman L, et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 2004; 41:241-248.
    • (2004) J Med Genet , vol.41 , pp. 241-248
    • Shaw-Smith, C.1    Redon, R.2    Rickman, L.3
  • 7
    • 25444432040 scopus 로고    scopus 로고
    • Diagnostic genome profiling in mental retardation
    • de Vries BB, Pfundt R, Leisink M, et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005; 77:606-616. This paper describes the first use of a genome-wide tiling array in 100 patients with unexplained mental retardation. Polymorphisms were found in 97%, which is a high number, but most were resolved by analysis of parental DNAs. Ten de novo variants (10%), considered clinically significant were discovered.
    • (2005) Am J Hum Genet , vol.77 , pp. 606-616
    • De Vries, B.B.1    Pfundt, R.2    Leisink, M.3
  • 8
    • 24944478689 scopus 로고    scopus 로고
    • Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)
    • Schoumans J, Ruivenkamp C, Holmberg E, et al. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 2005; 42:699-705. These authors used a 1 Mb array containing 2600 BAG clones in children with mental retardation who previously had normal FISH. They found de novo chromosomal imbalances in 4/41 patients (9.8%), ranging from 2 to 14 Mb. The large deletions were not found by previous karyotyping.
    • (2005) J Med Genet , vol.42 , pp. 699-705
    • Schoumans, J.1    Ruivenkamp, C.2    Holmberg, E.3
  • 9
    • 32944465548 scopus 로고    scopus 로고
    • Array-CGH detection of micro rearrangements in mentally retarded individuals: Clinical significance of imbalances present both in affected children and normal parents
    • published online June 24, 2005; doi:10.1136/jmg.2005.032268
    • Rosenberg C, Knijnenburg J, Bakker E et al. Array-CGH detection of micro rearrangements in mentally retarded individuals: Clinical significance of imbalances present both in affected children and normal parents. J Med Genet 2005; published online June 24, 2005; doi:10.1136/jmg.2005.032268. This is another paper describing results of array-CGH testing in individuals with mental retardation, showing a yield of 16% of chromosomal imbalances that were interpreted as causative for the phenotype. Note that many of the chromosomal defects found in references 6-9 would not have been suspected prenatally.
    • (2005) J Med Genet
    • Rosenberg, C.1    Knijnenburg, J.2    Bakker, E.3
  • 11
    • 10744231187 scopus 로고    scopus 로고
    • Representational oligonucleotide microarray analysis: A high-resolution method to detect genome copy number variation
    • Lucito R, Healy J, Alexander J, et al. Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res 2003; 13:2291-2305.
    • (2003) Genome Res , vol.13 , pp. 2291-2305
    • Lucito, R.1    Healy, J.2    Alexander, J.3
  • 12
    • 2642556276 scopus 로고    scopus 로고
    • High resolution microarray comparative genomic hybridisation analysis using spotted oligonucleotides
    • Carvalho B, Ouwerkerk E, Meijer GA, et al. High resolution microarray comparative genomic hybridisation analysis using spotted oligonucleotides. J Clin Pathol 2004; 57:644-646.
    • (2004) J Clin Pathol , vol.57 , pp. 644-646
    • Carvalho, B.1    Ouwerkerk, E.2    Meijer, G.A.3
  • 13
    • 10744230160 scopus 로고    scopus 로고
    • High-resolution analysis of DNA copy number using oligonucleotide microarrays
    • Bignell GR, Huang J, Greshock J, et al. High-resolution analysis of DNA copy number using oligonucleotide microarrays. Genome Res 2004; 14:287-295.
    • (2004) Genome Res , vol.14 , pp. 287-295
    • Bignell, G.R.1    Huang, J.2    Greshock, J.3
  • 14
    • 19944418773 scopus 로고    scopus 로고
    • Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA
    • USA
    • Barrett MT, Scheffer A, Ben-Dor A, et al. Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci USA 2004; 101:17765-17770. First description of a 60-mer oligonucleotide array platform that may have potential for prenatal diagnostic use in the future.
    • (2004) Proc Natl Acad Sci , vol.101 , pp. 17765-17770
    • Barrett, M.T.1    Scheffer, A.2    Ben-Dor, A.3
  • 15
    • 13844299266 scopus 로고    scopus 로고
    • High-resolution analysis of chromosomal imbalances using the Affymetrix 10K SNP genotyping chip
    • Herr A, Grutzmann R, Matthaei A, et al. High-resolution analysis of chromosomal imbalances using the Affymetrix 10K SNP genotyping chip. Genomics 2005; 85:392-400.
    • (2005) Genomics , vol.85 , pp. 392-400
    • Herr, A.1    Grutzmann, R.2    Matthaei, A.3
  • 16
    • 22244453416 scopus 로고    scopus 로고
    • A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays
    • Nannya Y, Sanada M, Nakazaki K, et al. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res 2005; 65:6071-6079.
    • (2005) Cancer Res , vol.65 , pp. 6071-6079
    • Nannya, Y.1    Sanada, M.2    Nakazaki, K.3
  • 17
    • 27244449351 scopus 로고    scopus 로고
    • High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs
    • Slater HR, Bailey DK, Ren H, et al. High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs. Am J Hum Genet 2005; 77:709-726. This paper shows that an oligo-array containing 116,204 SNPs not only detects and precisely maps DNA copy number changes, but also finds uniparental disomy and determines its parental origin. Stored DNA was used for the analysis and included samples with previously known abnormalities as well as some that failed karyotype analysis.
    • (2005) Am J Hum Genet , vol.77 , pp. 709-726
    • Slater, H.R.1    Bailey, D.K.2    Ren, H.3
  • 18
    • 17644397384 scopus 로고    scopus 로고
    • Exon array CGH: Detection of copy-number changes at the resolution of individual exons in the human genome
    • Dhami P, Coffey AJ, Abbs S, et al. Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. Am J Hum Genet 2005; 76:750-762. This is the first description of an exon array used for copy number analysis. This was a limited array, but the data in this paper promise that this will be a useful platform for future genome-wide arrays.
    • (2005) Am J Hum Genet , vol.76 , pp. 750-762
    • Dhami, P.1    Coffey, A.J.2    Abbs, S.3
  • 19
    • 4444239112 scopus 로고    scopus 로고
    • Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
    • Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004; 36:955-957. This is a landmark paper on a major disease gene discovery using array-CGH technology.
    • (2004) Nat Genet , vol.36 , pp. 955-957
    • Vissers, L.E.1    Van Ravenswaaij, C.M.2    Admiraal, R.3
  • 20
    • 27744502885 scopus 로고    scopus 로고
    • Identification of disease genes by whole genome CGH arrays
    • Vissers LE, Veltman JA, van Kessel AG, et al. Identification of disease genes by whole genome CGH arrays. Hum Mol Genet 2005; 14 (Suppl 2):R215-R223. An interesting review on the use of array CGH to identify novel disease genes by the authors who applied this technology to find the gene causing CHARGE syndrome.
    • (2005) Hum Mol Genet , vol.14 , Issue.2 SUPPL.
    • Vissers, L.E.1    Veltman, J.A.2    Van Kessel, A.G.3
  • 21
    • 4444291843 scopus 로고    scopus 로고
    • Detection of large-scale variation in the human genome
    • Iafrate AJ, Feuk L, Rivera MN, et al. Detection of large-scale variation in the human genome. Nat Genet 2004; 36:949-951. See comments under reference 22.
    • (2004) Nat Genet , vol.36 , pp. 949-951
    • Iafrate, A.J.1    Feuk, L.2    Rivera, M.N.3
  • 22
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat J, Lakshmi B, Troge J, et al. Large-scale copy number polymorphism in the human genome. Science 2004; 305:525-528. References 21 and 22 use slightly different approaches to demonstrate that the human genome contains hundreds of segmental duplicatons and deletions, interpreted as normal copy number variation, but the true significance of all of them is unknown. Interestingly, there is little overlap between the identified segments in both papers, suggesting that there may be many more such regions.
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1    Lakshmi, B.2    Troge, J.3
  • 23
    • 20544462642 scopus 로고    scopus 로고
    • Segmental duplications and copy-number variation in the human genome
    • Sharp AJ, Locke DP, McGrath SD, et al. Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 2005; 77:78-88. This paper also describes the presence of normal copy number variation in the genome.
    • (2005) Am J Hum Genet , vol.77 , pp. 78-88
    • Sharp, A.J.1    Locke, D.P.2    McGrath, S.D.3
  • 24
    • 19944432367 scopus 로고    scopus 로고
    • The complex nature of constitute tional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
    • Gribble SM, Prigmore E, Burford DC, et al. The complex nature of constitute tional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet 2005; 42:8-16. See comments under reference 25.
    • (2005) J Med Genet , vol.42 , pp. 8-16
    • Gribble, S.M.1    Prigmore, E.2    Burford, D.C.3
  • 25
    • 33644551803 scopus 로고    scopus 로고
    • Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals
    • Baptista J, Prigmore E, Gribble SM, et al. Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals. Eur J Hum Genet 2005; 13:1205-1212. References 24 and 25 are important papers because they highlight that a proportion of translocations that appear balanced on routine karyotyping are actually associated with submicroscopic microdeletions and microduplications that could cause abnormal phenotypes.
    • (2005) Eur J Hum Genet , vol.13 , pp. 1205-1212
    • Baptista, J.1    Prigmore, E.2    Gribble, S.M.3
  • 26
    • 33645860850 scopus 로고    scopus 로고
    • Microarray-based comparative genomic hybridization testing in deletion-bearing Angelman Syndrome patients: Genotype-phenotype correlations
    • published online 11 November, 2005; doi 10.1002/ajmg.a.31000
    • Sahoo T, Peters SU, Madduri NS et al. Microarray-based comparative genomic hybridization testing in deletion-bearing Angelman Syndrome patients: Genotype-phenotype correlations. J Med Genet 2005; published online 11 November, 2005; doi 10.1002/ajmg.a.31000. See comments under reference 29.
    • (2005) J Med Genet
    • Sahoo, T.1    Peters, S.U.2    Madduri, N.S.3
  • 27
    • 10744221541 scopus 로고    scopus 로고
    • Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
    • Yu W, Ballif BC, Kashork CD, et al. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet 2003; 12:2145-2152.
    • (2003) Hum Mol Genet , vol.12 , pp. 2145-2152
    • Yu, W.1    Ballif, B.C.2    Kashork, C.D.3
  • 28
    • 1442280674 scopus 로고    scopus 로고
    • DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets
    • Mantripragada KK, Tapia-Paez I, Blennow E, et al. DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets. Int J Mol Med 2004; 13:273-279. See comments under reference 29.
    • (2004) Int J Mol Med , vol.13 , pp. 273-279
    • Mantripragada, K.K.1    Tapia-Paez, I.2    Blennow, E.3
  • 29
    • 13444287929 scopus 로고    scopus 로고
    • Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: Contiguous gene deletion or "deletion with positional effect" syndrome?
    • Redon R, Rio M, Gregory SG, et al. Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? J Med Genet 2005; 42:166-171. References 26, 28 and 29 show that region-specific tiling microarrays are a powerful tool to better define boundaries of microdeletion and duplication syndromes and to study the correlation with phenotypes. Unusual phenotypes and new features of known microdeletion syndromes can be found. This is relevant for counseling about the predicted phenotype if array-CGH is used for prenatal diagnosis.
    • (2005) J Med Genet , vol.42 , pp. 166-171
    • Redon, R.1    Rio, M.2    Gregory, S.G.3
  • 30
    • 0942278950 scopus 로고    scopus 로고
    • Cost utility of prenatal diagnosis and the risk-based threshold
    • Harris RA, Washington AE, Nease RF Jr. et al. Cost utility of prenatal diagnosis and the risk-based threshold. Lancet 2004; 363:276-282.
    • (2004) Lancet , vol.363 , pp. 276-282
    • Harris, R.A.1    Washington, A.E.2    Nease Jr., R.F.3
  • 31
    • 1842615101 scopus 로고    scopus 로고
    • Assessment of demand for prenatal diagnostic testing using willingness to pay
    • Caughey AB, Washington AE, Gildengorin V, et al. Assessment of demand for prenatal diagnostic testing using willingness to pay. Obstet Gynecol 2004; 103:539-545.
    • (2004) Obstet Gynecol , vol.103 , pp. 539-545
    • Caughey, A.B.1    Washington, A.E.2    Gildengorin, V.3
  • 32
    • 13444279115 scopus 로고    scopus 로고
    • Cell-free fetal DNA in maternal blood: Kinetics, source and structure
    • Bischoff FZ, Lewis DE, Simpson JL. Cell-free fetal DNA in maternal blood: kinetics, source and structure. Hum Reprod Update 2005; 11:59-67.
    • (2005) Hum Reprod Update , vol.11 , pp. 59-67
    • Bischoff, F.Z.1    Lewis, D.E.2    Simpson, J.L.3
  • 33
    • 18744384945 scopus 로고    scopus 로고
    • DNA identification of fetal cells isolated from cervical mucus: Potential for early non-invasive prenatal diagnosis
    • Katz-Jaffe MG, Mantzaris D, Cram DS. DNA identification of fetal cells isolated from cervical mucus: potential for early non-invasive prenatal diagnosis. BJOG 2005; 112:595-600.
    • (2005) BJOG , vol.112 , pp. 595-600
    • Katz-Jaffe, M.G.1    Mantzaris, D.2    Cram, D.S.3
  • 34
    • 0141863495 scopus 로고    scopus 로고
    • First-trimester screening for trisomies 21 and 18
    • Wapner R, Thom E, Simpson JL, et al. First-trimester screening for trisomies 21 and 18. N Engl J Med 2003; 349:1405-1413.
    • (2003) N Engl J Med , vol.349 , pp. 1405-1413
    • Wapner, R.1    Thom, E.2    Simpson, J.L.3
  • 35
    • 0037426072 scopus 로고    scopus 로고
    • Antenatal screening for Down's syndrome with the quadruple test
    • Wald NJ, Huttly WJ, Hackshaw AK. Antenatal screening for Down's syndrome with the quadruple test. Lancet 2003; 361:835-836.
    • (2003) Lancet , vol.361 , pp. 835-836
    • Wald, N.J.1    Huttly, W.J.2    Hackshaw, A.K.3
  • 36
    • 27744477773 scopus 로고    scopus 로고
    • First-trimester or second-trimester screening, or both, for Down's syndrome
    • Malone FD, Canick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 2005; 353:2001-2011.
    • (2005) N Engl J Med , vol.353 , pp. 2001-2011
    • Malone, F.D.1    Canick, J.A.2    Ball, R.H.3
  • 37
    • 0035746683 scopus 로고    scopus 로고
    • Prenatal diagnosis of the 22q11.2 deletion syndrome
    • Driscoll DA. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet Med 2001; 3:14-18.
    • (2001) Genet Med , vol.3 , pp. 14-18
    • Driscoll, D.A.1
  • 38
    • 10744233914 scopus 로고    scopus 로고
    • A tiling resolution DNA microarray with complete coverage of the human genome
    • Ishkanian AS, Malloff CA, Watson SK, et al. A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 2004; 36:299-303. This paper describes the first tiling resolution CGH array, constructed with 32,433 BAC clones. Precise mapping of microamplifications and microdeletions as small as 240Kb in cancer cell lines is shown.
    • (2004) Nat Genet , vol.36 , pp. 299-303
    • Ishkanian, A.S.1    Malloff, C.A.2    Watson, S.K.3
  • 39
    • 2942575149 scopus 로고    scopus 로고
    • A cytogeneticist's perspective on genomic microarrays
    • Shaffer LG, Bejjani BA. A cytogeneticist's perspective on genomic microarrays. Hum Reprod Update 2004; 10:221-226.
    • (2004) Hum Reprod Update , vol.10 , pp. 221-226
    • Shaffer, L.G.1    Bejjani, B.A.2
  • 40
    • 10844232112 scopus 로고    scopus 로고
    • Whole genome DNA copy number changes identified by high density oligonucleotide arrays
    • Huang J, Wei W, Zhang J, et al. Whole genome DNA copy number changes identified by high density oligonucleotide arrays. Hum Genomics 2004; 1:287-299.
    • (2004) Hum Genomics , vol.1 , pp. 287-299
    • Huang, J.1    Wei, W.2    Zhang, J.3
  • 41
    • 10844222511 scopus 로고    scopus 로고
    • Molecular karyotyping using an SNP array for genomewide genotyping
    • Rauch A, Ruschendorf F, Huang J, et al. Molecular karyotyping using an SNP array for genomewide genotyping. J Med Genet 2004; 41:916-922.
    • (2004) J Med Genet , vol.41 , pp. 916-922
    • Rauch, A.1    Ruschendorf, F.2    Huang, J.3
  • 42
    • 2342647468 scopus 로고    scopus 로고
    • High-resolution single-nucleotide polymorphism array and clustering analysis of loss of heterozygosity in human lung cancer cell lines
    • Janne PA, Li C, Zhao X, et al. High-resolution single-nucleotide polymorphism array and clustering analysis of loss of heterozygosity in human lung cancer cell lines. Oncogene 2004; 23:2716-2726.
    • (2004) Oncogene , vol.23 , pp. 2716-2726
    • Janne, P.A.1    Li, C.2    Zhao, X.3
  • 43
    • 9144240478 scopus 로고    scopus 로고
    • Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
    • Vissers LE, de Vries BB, Osoegawa K, et al. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003; 73:1261-1270.
    • (2003) Am J Hum Genet , vol.73 , pp. 1261-1270
    • Vissers, L.E.1    De Vries, B.B.2    Osoegawa, K.3
  • 44
    • 33645798271 scopus 로고    scopus 로고
    • Chromosomal copy number changes in patients with non-syndromic X-linked mental retardation detected by array CGH
    • published online 16 September 2005; doi:10.1136/jmg.2005.036178
    • Lugtenberg D, de Brouwer AP, Kleefstra T et al. Chromosomal copy number changes in patients with non-syndromic X-linked mental retardation detected by array CGH. J Med Genet 2005; published online 16 September 2005; doi:10.1136/jmg.2005.036178. This is an interesting paper in which DNA from 40 patients with X-linked mental retardation was tested on an X-chromosome-specific BAC tiling array; two duplications and one deletion were found.
    • (2005) J Med Genet
    • Lugtenberg, D.1    De Brouwer, A.P.2    Kleefstra, T.3
  • 45
    • 4143133138 scopus 로고    scopus 로고
    • Microarray analysis of cell-free fetal DNA in amniotic fluid: A prenatal molecular karyotype
    • Larrabee PB, Johnson KL, Pestova E, et al. Microarray analysis of cell-free fetal DNA in amniotic fluid: a prenatal molecular karyotype. Am J Hum Genet 2004; 75:485-491. This study on array CGH on cell-free DNA from amniotic fluid is interesting, because it demonstrates that amniotic fluid supernatant, even after freezing, can be used for array-CGH. However, the assay had relatively low sensitivity (compared for example to reference 5).
    • (2004) Am J Hum Genet , vol.75 , pp. 485-491
    • Larrabee, P.B.1    Johnson, K.L.2    Pestova, E.3
  • 46
    • 2442671820 scopus 로고    scopus 로고
    • Allelic imbalance analysis by high-density single-nucleotide polymorphic allele (SNP) array with whole genome amplified DNA
    • Wong KK, Tsang YT, Shen J, et al. Allelic imbalance analysis by high-density single-nucleotide polymorphic allele (SNP) array with whole genome amplified DNA. Nucleic Acids Res 2004; 32:e69.
    • (2004) Nucleic Acids Res , vol.32
    • Wong, K.K.1    Tsang, Y.T.2    Shen, J.3
  • 47
    • 2442666390 scopus 로고    scopus 로고
    • Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages
    • Schaeffer AJ, Chung J, Heretis K, et al. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am J Hum Genet 2004; 74:1168-1174. This paper demonstrates the sensitivity of a diagnostic CGH array on spontaneous abortion material. It differs from reference 48 in that samples with previously successful karyotype analysis were selected.
    • (2004) Am J Hum Genet , vol.74 , pp. 1168-1174
    • Schaeffer, A.J.1    Chung, J.2    Heretis, K.3
  • 48
    • 27144547761 scopus 로고    scopus 로고
    • Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro
    • Benkhalifa M, Kasakyan S, Clement P, et al. Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro. Prenat Diagn 2005; 25:894-900. This paper is important, because it shows that array-CGH can detect chromosomal imbalances in samples from spontaneous abortions that fail to grow in culture, from which otherwise no cytogenetic diagnostic information would have been obtained. Both the studies in references 47 and 48 find unsuspected abnormalities and highlight difficulties with triploidy detection.
    • (2005) Prenat Diagn , vol.25 , pp. 894-900
    • Benkhalifa, M.1    Kasakyan, S.2    Clement, P.3
  • 49
    • 13444287933 scopus 로고    scopus 로고
    • Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations
    • 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. This is an important study of array-CGH using a small commercial diagnostic array on DNA from frozen tissues of 49 fetuses with multiple malformations and normal karyotype; 5 causative chromosomal abnormalities were found that would otherwise have remained undetected.
    • (2005) J Med Genet , vol.42 , pp. 121-128
    • Le Caignec, C.1    Boceno, M.2    Saugier-Veber, P.3
  • 50
    • 0035143677 scopus 로고    scopus 로고
    • Diagnosis of aneuploidy in archival, paraffin-embedded pregnancy-loss tissues by comparative genomic hybridization
    • Bell KA, Van Deerlin PG, Feinberg RF, et al. Diagnosis of aneuploidy in archival, paraffin-embedded pregnancy-loss tissues by comparative genomic hybridization. Fertil Steril 2001; 75:374-379.
    • (2001) Fertil Steril , vol.75 , pp. 374-379
    • Bell, K.A.1    Van Deerlin, P.G.2    Feinberg, R.F.3
  • 51
    • 28544445946 scopus 로고    scopus 로고
    • Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome arms
    • Knijnenburg J, van der Burg M, Nilsson P, et al. Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome arms. Nucleic Acids Res 2005; 33:e159.
    • (2005) Nucleic Acids Res , vol.33
    • Knijnenburg, J.1    Van Der Burg, M.2    Nilsson, P.3
  • 52
    • 2942575921 scopus 로고    scopus 로고
    • Advances in preimplantation genetic diagnosis
    • Wells D. Advances in preimplantation genetic diagnosis. Eur J Obstet Gynecol Reprod Biol 2004; 115 (Suppl 1):S97-S101.
    • (2004) Eur J Obstet Gynecol Reprod Biol , vol.115 , Issue.1 SUPPL.
    • Wells, D.1
  • 53
    • 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
  • 54
    • 25544473245 scopus 로고    scopus 로고
    • Pregnancy loss rates after mid-trimester amniocentesis: The faster trial
    • Eddleman K, Berkowitz R, Kharbutli Y, et al. Pregnancy loss rates after mid-trimester amniocentesis: the faster trial. Am J Obstet Gynecol 2003; 189:S111.
    • (2003) Am J Obstet Gynecol , vol.189
    • Eddleman, K.1    Berkowitz, R.2    Kharbutli, Y.3
  • 55
    • 33646505925 scopus 로고    scopus 로고
    • Chapter 13: Techniques for prenatal diagnosis
    • Simpson JL, Elias S, editors. Philadelphia: Saunders
    • Simpson JL, Elias S. Chapter 13: Techniques for prenatal diagnosis. In: Simpson JL, Elias S, editors. Genetics in Obstetrics and Gynecology. Philadelphia: Saunders; 2003. pp. 345-355.
    • (2003) Genetics in Obstetrics and Gynecology , pp. 345-355
    • Simpson, J.L.1    Elias, S.2
  • 56
    • 22144488967 scopus 로고    scopus 로고
    • Prenatal testing guidelines: Time for a new approach
    • Kuppermann M, Norton ME. Prenatal testing guidelines: time for a new approach. Gynecol Obstet Invest 2005; 60:6-10.
    • (2005) Gynecol Obstet Invest , vol.60 , pp. 6-10
    • Kuppermann, M.1    Norton, M.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.