Lefort Geneviève, Blanchet Patricia, Belgrade Nabia, Rivier François, Chaze Anne Marie, Sarda Pierre, Demaille Jacques, Pellestor Franck
Cytogenetics Laboratory, C.H.U. Montpellier, France.
Am J Med Genet A. 2003 Apr 15;118A(2):333-8.
We report on the extremely rare occurrence of a stable dicentric duplication-deletion chromosome 14 in a viable offspring with multiple malformations and developmental delay. This abnormality was derived from a maternal paracentric inversion in the long arm of chromosome 14. Both classical and molecular cytogenetic techniques were used to perform the chromosomal investigation of this structural abnormality. The immunofluorescent labeling of centromeric proteins shows only one functional centromere on the rearranged chromosome 14. The present observation confirms that paracentric inversions may lead to stable recombinant chromosomes.
我们报告了在一名患有多种畸形和发育迟缓的存活后代中极其罕见地出现了一条稳定的双着丝粒重复-缺失14号染色体。这种异常源自14号染色体长臂的母源性臂内倒位。使用经典和分子细胞遗传学技术对这种结构异常进行了染色体研究。着丝粒蛋白的免疫荧光标记显示，重排后的14号染色体上只有一个功能着丝粒。本观察结果证实臂内倒位可能导致稳定的重组染色体。
