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- W2016023093 abstract "A 5-month-old girl had a typical 12p trisomy syndrome due to a monocentric i(12p) present in a 46-chromosome complement that also included the translocation of all 12q onto the 8p telomere; i.e., her complex karyotype could be written as 46.XX, – 8,–12,+ der(8),t(8;12)(p23.3;cen), + i(12p). The present concurrence of a whole-arm q translocation and an i(p) for a single chromocome, along with six previous similar instances involving chromosomes 4, 5 and 9, suggests the following origin for such a special rearrangement: a centric fission in Gl initially yielding two telocentrics; at the next replication, the tel(q) translocates onto a nonhomologous telomere (centromere-telomere fusion), whereas the tel(p) becomes an i(p). This mechanism can be either meiotic or postzygotic and surmises that the translocated long arm retains a partial centromere, which subsequently is inactivated and loses its staining properties." @default.
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- W2016023093 date "2008-06-28" @default.
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- W2016023093 title "Centric fission, centromere-telomere fusion and isochromosome formation: a possible origin of a de novo 12p trisomy" @default.
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- W2016023093 doi "https://doi.org/10.1111/j.1399-0004.1987.tb02831.x" @default.
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