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Case Reports
. 2004;15(3):303-10.

De novo complex chromosome rearrangement: a study of two patients

D G Melo  1 , J Huber, L R Giuliani, L F Mazzucatto, M Riegel, J M Pina-Neto
Affiliations
  • PMID: 15517822
Case Reports

De novo complex chromosome rearrangement: a study of two patients

D G Melo et al. Genet Couns. 2004.

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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