Zhang F, Gu W, Hurles ME, Lupski JR: Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet 2009, 10: 451–481. 10.1146/annurev.genom.9.081307.164217
Article
PubMed Central
CAS
PubMed
Google Scholar
Gu W, Zhang F, Lupski JR: Mechanisms for human genomic rearrangements. Pathogenetics 2008, 1: 4. 10.1186/1755-8417-1-4
Article
PubMed Central
PubMed
Google Scholar
Stankiewicz P, Lupski JR: Structural variation in the human genome and its role in disease. Annu Rev Med 2010, 61: 437–455. 10.1146/annurev-med-100708-204735
Article
CAS
PubMed
Google Scholar
Emanuel BS, Shaikh TH: Segmental duplications: an 'expanding' role in genomic instability and disease. Nat Rev Genet 2001, 2: 791–800.
Article
CAS
PubMed
Google Scholar
Bailey JA, Eichler EE: Primate segmental duplications: crucibles of evolution, diversity and disease. Nat Rev Genet 2006, 7: 552–564.
Article
CAS
PubMed
Google Scholar
Feuk L: Inversion variants in the human genome: role in disease and genome architecture. Genome Med 2010, 2: 11. 10.1186/gm132
Article
PubMed Central
PubMed
Google Scholar
Shaw CJ, Lupski JR: Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 2004, 13(Spec No 1):R57–64.
Article
CAS
PubMed
Google Scholar
Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD: Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet 1999, 65: 370–386. 10.1086/302510
Article
PubMed Central
CAS
PubMed
Google Scholar
Makoff AJ, Flomen RH: Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. Genome Biol 2008, 8: R114.
Article
Google Scholar
Butler MG, Fischer W, Kibiryeva N, Bittel DC: Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am J Med Genet A 2008, 146: 854–860.
Article
Google Scholar
Online Mendelian Inheritance in Man[http://www.ncbi.nlm.nih.gov/omim]
Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol L, Schinzel A, Estivill X, et al.: Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum Mol Genet 2003, 12: 849–858. 10.1093/hmg/ddg101
Article
CAS
PubMed
Google Scholar
Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, et al.: A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. Nat Genet 2001, 29: 321–325. 10.1038/ng753
Article
PubMed Central
CAS
PubMed
Google Scholar
Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH: Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization. Am J Med Genet 1998, 79: 82–89. 10.1002/(SICI)1096-8628(19980901)79:2<82::AID-AJMG2>3.0.CO;2-P
Article
CAS
PubMed
Google Scholar
Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, Thomas NS: Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. Am J Med Genet A 2006, 140: 434–441.
Article
CAS
PubMed
Google Scholar
Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH: Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. J Med Genet 2001, 38: 26–34. 10.1136/jmg.38.1.26
Article
PubMed Central
CAS
PubMed
Google Scholar
Salavoura K, Kolialexi A, Sofocleous C, Kalaitzidaki M, Pampanos A, Kitsiou S, Mavrou A: Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome. Genet Couns 2008, 19: 219–224.
CAS
PubMed
Google Scholar
Molina O, Blanco J, Vidal F: Deletions and duplications of the 15q11-q13 region in spermatozoa from Prader-Willi syndrome fathers. Mol Hum Reprod 2010, 16: 320–328. 10.1093/molehr/gaq005
Article
CAS
PubMed
Google Scholar
UCSC Genome Bioinformatics[http://genome.ucsc.edu/]
Martin RH: Cytogenetic determinants of male fertility. Hum Reprod Update 2008, 14: 379–390. 10.1093/humupd/dmn017
Article
PubMed Central
CAS
PubMed
Google Scholar
Anton E, Vidal F, Blanco J: Role of sperm FISH studies in the genetic reproductive advice of structural reorganization carriers. Hum Reprod 2007, 22: 2088–2092. 10.1093/humrep/dem152
Article
CAS
PubMed
Google Scholar
Sarrate Z, Vidal F, Blanco J: Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance. Fertil Steril 2009, 93: 1892–1902.
Article
PubMed
Google Scholar
van den Engh G, Sachs R, Trask BJ: Estimating genomic distance from DNA sequence location in cell nuclei by a random walk model. Science 1992, 257: 1410–1412. 10.1126/science.1388286
Article
CAS
PubMed
Google Scholar
Bosch N, Morell M, Ponsa I, Mercader JM, Armengol L, Estivill X: Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism. PLoS One 2009, 4: e8269. 10.1371/journal.pone.0008269
Article
PubMed Central
PubMed
Google Scholar
Hobart HH, Morris CA, Mervis CB, Pani AM, Kistler DJ, Rios CM, Kimberley KW, Gregg RG, Bray-Ward P: Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome. Am J Med Genet C Semin Med Genet 2010, 154C: 220–228. 10.1002/ajmg.c.30258
Article
PubMed Central
CAS
PubMed
Google Scholar
Cusco I, Corominas R, Bayes M, Flores R, Rivera-Brugues N, Campuzano V, Perez-Jurado LA: Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion. Genome Res 2008, 18: 683–694. 10.1101/gr.073197.107
Article
PubMed Central
CAS
PubMed
Google Scholar
Carvalho CM, Lupski JR: Copy number variation at the breakpoint region of isochromosome 17q. Genome Res 2008, 18: 1724–1732. 10.1101/gr.080697.108
Article
PubMed Central
CAS
PubMed
Google Scholar
Sarrate Z, Anton E: Fluorescence in situ hybridization (FISH) protocol in human sperm. J Vis Exp 2009.
Google Scholar
Antonacci F, Kidd JM, Marques-Bonet T, Ventura M, Siswara P, Jiang Z, Eichler EE: Characterization of six human disease-associated inversion polymorphisms. Hum Mol Genet 2009, 18: 2555–2566. 10.1093/hmg/ddp187
Article
PubMed Central
CAS
PubMed
Google Scholar
Visser R, Shimokawa O, Harada N, Kinoshita A, Ohta T, Niikawa N, Matsumoto N: Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion. Am J Hum Genet 2005, 76: 52–67. 10.1086/426950
Article
PubMed Central
CAS
PubMed
Google Scholar
Bayes M, Magano LF, Rivera N, Flores R, Perez Jurado LA: Mutational mechanisms of Williams-Beuren syndrome deletions. Am J Hum Genet 2003, 73: 131–151. 10.1086/376565
Article
PubMed Central
CAS
PubMed
Google Scholar
Sugawara H, Harada N, Ida T, Ishida T, Ledbetter DH, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N: Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics 2003, 82: 238–244. 10.1016/S0888-7543(03)00108-3
Article
CAS
PubMed
Google Scholar
Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, et al.: A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 2008, 40: 322–328. 10.1038/ng.93
Article
PubMed Central
CAS
PubMed
Google Scholar
Rao PN, Li W, Vissers LE, Veltman JA, Ophoff RA: Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype. Cytogenet Genome Res 2010, 129: 275–279. 10.1159/000315901
Article
PubMed Central
CAS
PubMed
Google Scholar