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- W2016264493 abstract "We describe here a patient with intrachromosomal triplication 15q11-q13, a rare chromosomal event associated with severe mental retardation and intractable epilepsy. Cytogenetic studies including FISH on interphasic nuclei showed that the middle segment of the triplication was inverted in orientation. Molecular analyses demonstrated that the rearrangement was of maternal origin. Based on these cytogenetic and molecular data and those of the nine cases reported in the literature, we discuss the mechanistic origins of these triplications. We present several arguments for the mechanism involving two U-type exchanges occurring simultaneously at the pachytene stage of meiosis." @default.
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- W2016264493 date "2003-02-25" @default.
- W2016264493 modified "2023-10-18" @default.
- W2016264493 title "Mechanism of intrachromosomal triplications 15q11-q13: A new clinical report" @default.
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- W2016264493 doi "https://doi.org/10.1002/ajmg.a.10164" @default.
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