De novo complex chromosome rearrangement: a study of two patients |
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| Authors: | Melo D G Huber J Giuliani L R Mazzucatto L F Riegel M Pina-Neto J M |
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| Institution: | Department of Genetics, School of Medicine of Ribeir?o Preto, University of S?o Paulo, Brazil. |
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| 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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