| Literature DB >> 15517822 |
D G Melo1, J Huber, L R Giuliani, L F Mazzucatto, M Riegel, J M Pina-Neto.
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.Entities:
Mesh:
Year: 2004 PMID: 15517822
Source DB: PubMed Journal: Genet Couns ISSN: 1015-8146