新发复杂染色体重排：对两名患者的研究
De novo complex chromosome rearrangement: a study of two patients.
作者信息
Melo D G, Huber J, Giuliani L R, Mazzucatto L F, Riegel M, Pina-Neto J M
机构信息
Department of Genetics, School of Medicine of Ribeirão Preto, University of São Paulo, Brazil.
出版信息
Genet Couns. 2004;15(3):303-10.
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.
涉及两条或更多条染色体多处断裂的复杂染色体重排（CCR）较为罕见。我们描述了一名发育迟缓且身材高大的女孩，其呈现出一种涉及1号、2号、3号、4号和12号染色体的九处断裂且明显平衡的新发重排；以及一名患有发育迟缓并伴有癫痫发作的男孩，其具有一种涉及2号、7号和13号染色体的复杂三条染色体且明显平衡的新发重排。本文讨论了临床异常与明显平衡重排之间的关系。
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