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  • Title: De novo complex chromosome rearrangement: a study of two patients.
    Author: Melo DG, Huber J, Giuliani LR, Mazzucatto LF, Riegel M, Pina-Neto JM.
    Journal: Genet Couns; 2004; 15(3):303-10. PubMed ID: 15517822.
    Abstract:
    Complex chromosome rearrangements (CCR) involving multiple breaks in two or more chromosomes are rare. We describe a girl with development delay and overgrowth who presents a nine-break apparently balanced de novo rearrangement involving chromosomes 1, 2, 3, 4 and 12, and a boy with developmental delay and seizures with a complex three-chromosome apparently balanced de novo rearrangement involving chromosomes 2, 7 and 13. The relationship between clinical abnormalities and apparently balanced rearrangements is discussed.
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