References
- Penrose LS. The relative effect of paternal and maternal age in mongolism. J Genet 1933;27:219–24
- Penrose LS. Maternal age, order of birth and developmental abnormalities. J Ment Sci 1939;85:1141–50
- Driscoll DA, Gross S. Clinical practice. Prenatal screening for aneuploidy. N Engl J Med 2009;360:2556–62
- Gautier M, Harper PS. Fiftieth anniversary of trisomy 21: returning to a discovery. Hum Genet 2009;126:317–24
- Jacobs PA, Baikie AG, Court Brown WM, Strong JA. The somatic chromosomes in mongolism. Lancet 1959;1:710
- Hultén MA, Patel SD, Westgren M, et al. On the paternal origin of trisomy 21 Down syndrome. Mol Cytogenet 2010;23;3:4
- Hultén MA, Patel SD, Tankimanova M, et al. On the origin of trisomy 21 Down syndrome. Mol Cytogenet 2008;18;1:21
- Meldi L, Brickner JH. Compartmentalization of the nucleus. Trends Cell Biol 2011;21:701–8
- Pearson JC, et al. Modulating Hox gene functions during animal body patterning. Nat Rev Genet 2005;6:893–904
- Chambeyron S, Bickmore WA. Chromatin decondensation and nuclear reorganization of the HoxB locus upon induction of transcription. Genes Dev 2004;18:1119–30
- Ahmed S, et al. DNA zip codes control an ancient mechanism for targeting genes to the nuclear periphery. Nat Cell Biol 2010;12:111–18
- Tremethick DJ. Higher-order structures of chromatin: the elusive 30 nm fiber. Cell 2007;128:651–4
- van Holde K, Zlatanova J. Chromatin higher order structure: chasing a mirage? J Biol Chem 1995;270:8373–6
- Fussner E, Djuric U, Strauss M, et al. Constitutive heterochromatin reorganization during somatic cell reprogramming. EMBO J 2011;30:1778–89
- Elgar G, Vavouri T. Tuning in to the signals: noncoding sequence conservation in vertebrate genomes. Trends Genet 2008;24:344–52
- Milani P, Chevereau G, Vaillant C, et al. Nucleosome positioning by genomic excluding-energy barriers. Proc Natl Acad Sci USA 2009;106:22257–62
- Smith CL, Peterson CL. ATP-dependent chromatin remodeling. Curr Top Dev Biol 2005;65:115–48
- Chuang CH, Belmont AS. Close encounters between active genes in the nucleus. Genome Biol 2005;6:237
- Marella NV, Bhattacharya S, Mukherjee L, et al. Cell type specific chromosome territory organization in the interphase nucleus of normal and cancer cells. J Cell Physiol 2009;221:130–8
- Pellegrini M. Relationship between nucleosome positioning and DNA methylation. Nature 2010;466:388–92
- Fröhling S, Döhner H. Chromosomal abnormalities in cancer. N Engl J Med 2008;359:722–34
- Zhang R, Adams PD. Heterochromatin and its relationship to cell senescence and cancer therapy. Cell Cycle 2007;6:784–9
- Yurov YB, Iourov IY, Monakhov VV, et al. The variation of aneuploidy frequency in the developing and adult human brain revealed by an interphase FISH study. J Histochem Cytochem 2005;53:385–90
- Iourov IY, Vorsanova SG, Yurov YB. Intercellular genomic (chromosomal) variations resulting in somatic mosaicism: mechanisms and consequences. Curr Genomics 2006;7:435–46
- Youssoufian H, Pyeritz RE. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 2002;3:748–58
- Russel LM, Strike P, Browne CE, Jacobs PA. X chromosome loss and aging. Cytogenet Genome Res 2007;116:181–5
- Kurahashi H, Inagaki H, Ohye T, et al. The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements. Clin Genet 2010;78:299–309
- Wells RD. Non-B DNA conformations, mutagenesis and disease. Trends Biochem Sci 2007;32:271–8
- Mirkin SM. Expandable DNA repeats and human disease. Nature 2007;447:932–40
- Bacolla A, Jaworski A, Larson JE, et al. Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci USA 2004;101:14162–7
- Mkrtchyan H, Gross M, Hinreiner S, et al. Early embryonic chromosome instability results in stable mosaic pattern in human tissues. PLoS One 2010;5:e9591
- Ionita-Laza I, Rogers AJ, Lange C, et al. Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis. Genomics 2009;93:22–6
- Freeman J, Perry G, Feuk L, et al. Copy number variation: new insights in genome diversity. Genome Res 2006;16:949–61
- Quail MA, Smith M, Coupland P, et al. A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers. BMC Genomics 2012;13:341
- Sehnert AJ, Rhees B, Comstock D, et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011;57:1042–9
- Cremer T, Cremer C. Chromosome territories, nuclear architecture and gene regulation in mammalian cells. Nat Rev Genet 2001;2:292–301
- Cremer T, et al. Chromosome territories – a functional nuclear landscape. Curr Opin Cell Biol 2006;18:307–16
- Gagniuc P, Ionescu-Tirgoviste C. Eukaryotic genomes may exhibit up to 10 generic classes of gene promoters. BMC Genomics 2012;13:512