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Aneuploidy Current Biology
Bernardo Orr, Kristina M. Godek, Duane Compton Current Biology Volume 25, Issue 13, Pages R538-R542 (June 2015) DOI: /j.cub Copyright © 2015 Elsevier Ltd Terms and Conditions
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Figure 1 Constitutional, somatic, and structural karyotypes.
(A) Spectral karyotype of a normal human diploid cell with 46 chromosomes (courtesy of National Human Genome Research Institute (B) G-band karyotype of a female with Down syndrome illustrating constitutional aneuploidy. All cells in this individual have 47 chromosomes with trisomy 21 (reprinted from Antonarakis et al. (2004) by permission from Macmillan Publishers Ltd: Nat. Rev. Genet. © 2004). (C) Two G-band karyotypes from an individual with mosaic variegated aneuploidy (MVA) demonstrating somatic aneuploidy. These lymphoblastoid cells have distinct whole chromosome losses and gains exemplifying the mosaic aneuploidies of MVA (reprinted from Hanks et al. (2004) by permission from Macmillan Publishers Ltd: Nat. Genet. © 2004). (D) Spectral karyotypes of glioblastoma-derived U251 cells. These cells are from the same culture but have unique whole chromosome and structural aneuploidies due to chromosomal instability (from Thompson and Compton (2011), with kind permission from Springer Science and Business Media). Current Biology , R538-R542DOI: ( /j.cub ) Copyright © 2015 Elsevier Ltd Terms and Conditions
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Figure 2 Mechanisms that generate aneuploidy.
Schematic representation of the cellular mechanisms that generate whole chromosomal aneuploidy and structural aneuploidy, or both. Bi-directional arrows illustrate that structural aneuploidy may cause whole chromosome aneuploidy and vice versa, through dysregulation of cell signaling pathways that are important for the maintenance of genomic stability. The same is true for the formation of merotelic k-MT attachments and the induction of tetraploidy. The formation of multipolar spindles during mitosis as a result of tetraploidy promotes the formation of merotelic k-MT attachments, which in turn causes whole chromosome mis-segregation, potentially leading to dysregulated centrosome duplication and tetraploidy. Current Biology , R538-R542DOI: ( /j.cub ) Copyright © 2015 Elsevier Ltd Terms and Conditions
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