Molekulare Karyotypisierung in der klinischen Diagnostik

Ballif BC, Rorem EA, Sundin K et al (2006) Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 140:2757–2767

Burger J, Horn D, Tonnies H et al (2002) Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. Am J Med Genet 111:233–237

Coe BP, Ylstra B, Carvalho B et al (2007) Resolving the resolution of array CGH. Genomics 89:647–653

De Gregori M, Ciccone R, Magini P et al (2007) Cryptic deletions are a common finding in „balanced“ reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 44:750–762

De Vries BB, Pfundt R, Leisink M et al (2005) Diagnostic genome profiling in mental retardation. Am J Hum Genet 77:606–616

Eichler EE, Nickerson DA, Altshuler D et al (2007) Completing the map of human genetic variation. Nature 447:161–165

Flint J, Knight S (2003) The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. Curr Opin Genet Dev 13:310–316

Friedman JM, Baross A, Delaney AD et al (2006) Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 79:500–513

Gohring I, Blumlein HM, Hoyer J et al (2008) 6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development. Eur J Med Genet Aug 12 [Epub ahead of print]

Hehir-Kwa JY, Egmont-Petersen M, Janssen IM et al (2007) Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis. DNA Res 14:1–11

Hollox EJ, Huffmeier U, Zeeuwen PL et al (2008) Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet 40:23–25

Hoyer J, Dreweke A, Becker C et al (2007) Molecular karyotyping in patients with mental retardation using 100 K single-nucleotide polymorphism arrays. J Med Genet 44:629–636

Lejeune J, Gautier M, Turpin R (1959) [Study of somatic chromosomes from 9 mongoloid children.]. C R Hebd Seances Acad Sci 248:1721–1722

Lesnik Oberstein SA, Kriek M, White SJ et al (2006) Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet 79:562–566

Lupski JR (1998) Genomic disorders:structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 14:417–422

Mefford HC, Sharp AJ, Baker C et al (2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 359:1685-1699

Pergament E (2007) Controversies and challenges of array comparative genomic hybridization in prenatal genetic diagnosis. Genet Med 9:596–599

Pinkel D, Segraves R, Sudar D et al (1998) High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207–211

Rauch A, Ruschendorf F, Huang J et al (2004) Molecular karyotyping using an SNP array for genomewide genotyping. J Med Genet 41:916–922

Rauch A, Hoyer J, Guth S et al (2006) Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A 140:2063–2074

Redon R, Ishikawa S, Fitch KR et al (2006) Global variation in copy number in the human genome. Nature 444:444–454

Rooms L, Reyniers E, Kooy RF (2005) Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods. Hum Mutat 25:513–524

Ropers HH, Hamel BC (2005) X-linked mental retardation. Nat Rev Genet 6:46–57

Sebat J, Lakshmi B, Malhotra D et al (2007) Strong association of de novo copy number mutations with autism. Science 316:445–449

Slavotinek AM (2008) Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 124:1–17

Solinas-Toldo S, Lampel S, Stilgenbauer S et al (1997) Matrix-based comparative genomic hybridization:biochips to screen for genomic imbalances. Genes Chromosomes Cancer 20:399–407

Thienpont B, Mertens L, de Ravel T et al (2007) Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J 28:2778–2784

Thorland EC, Gonzales PR, Gliem TJ et al (2007) Comprehensive validation of array comparative genomic hybridization platforms: how much is enough? Genet Med 9:632–641

Veltman JA, De Vries BB (2006) Diagnostic genome profiling: unbiased whole genome or targeted analysis? J Mol Diagn 8:534–539

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

Vermeesch JR, Rauch A (2006) Reply to Hochstenbach et al. ‚Molecular karyotyping’. Eur J Hum Genet 14:1063–1064

Vermeesch JR, Fiegler H, De Leeuw N et al (2007) Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet 15:1105–1114

Vissers LE, De Vries BB, Osoegawa K et al (2003) Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 73:1261–1270

Wong KK, dDeLeeuw RJ, Dosanjh NS et al (2007) A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 80:91–104

Zweier C, Peippo MM, Hoyer J et al (2007) Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 80:994–1001