Aberrant meiotic recombination can result in disease-causing chromosome microdeletions or microduplications. A new study of several disease-associated recombination hot spots in male germ cells shows that some genomic rearrangements, particularly microduplications, are significantly underdiagnosed.
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References
Turner, D.J. et al. Nat. Genet. 40, 90–95 (2008).
Shaw, C.J. & Lupski, J.R. Hum. Mol. Genet. 13, R57–R64 (2004).
Inoue, K. et al. Genome Res. 11, 1018–1033 (2001).
Stankiewicz, P. et al. Genome Res. 14, 2209–2220 (2004).
Babcock, M. et al. Hum. Mol. Genet. 16, 2560–2571 (2007).
Antonell, A. et al. Genome Res. 15, 1179–1188 (2005).
Shaikh, T.H. et al. Hum. Mol. Genet. 9, 489–501 (2000).
Bayés, M. et al. Am. J. Hum. Genet. 73, 131–151 (2003).
Visser, R. et al. Am. J. Hum. Genet. 76, 52–67 (2005).
Raedt, T.D. et al. Nat. Genet. 38, 1419–1423 (2006).
Kriek, M. et al. Eur. J. Hum. Genet. 14, 180–189 (2006).
Berg, J.S. et al. Genet. Med. 9, 427–441 (2007).
Redon, R. et al. Nature 444, 444–454 (2006).
Osborne, L.R. et al. Nat. Genet. 29, 321–325 (2001).
Torres-Juan, L. et al. BMC Med. Genet. 8, 14 (2007).
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Osborne, L. Genomic rearrangements in the spotlight. Nat Genet 40, 6–7 (2008). https://doi.org/10.1038/ng0108-6
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DOI: https://doi.org/10.1038/ng0108-6
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