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新着丝粒小额外标记染色体(sSMC)——另外三例及文献综述

Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature.

作者信息

Liehr T, Utine G E, Trautmann U, Rauch A, Kuechler A, Pietrzak J, Bocian E, Kosyakova N, Mrasek K, Boduroglu K, Weise A, Aktas D

机构信息

Institute of Human Genetics and Anthropology, Jena, Germany.

出版信息

Cytogenet Genome Res. 2007;118(1):31-7. doi: 10.1159/000106438.

Abstract

Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC(13) and sSMC(15) had inverted duplicated shapes and the sSMC(2) a ring chromosome shape. All three cases were clinically severely abnormal. A review of the available sSMC literature revealed that up to the present 73 neocentric sSMC cases including these three new cases have been reported. Seven of these cases were not characterized morphologically; in the remainder, 80% had an inverted duplication, 17% a ring and 3% a minute shape. 81% of the reported neocentric sSMC carriers showed severe, 12% moderate and 8% no clinical abnormalities. In summary, we report three more neocentric sSMC cases, provide a review on all up to now published cases, highlight their special characteristics and compare them to centric sSMC.

摘要

在此,我们报告了三名新患者,他们分别具有源自2号、13号和15号染色体的新着丝粒小额外标记染色体(sSMC)。sSMC(13)和sSMC(15)呈反向重复形状,而sSMC(2)呈环状染色体形状。所有三例患者临床症状均严重异常。对现有的sSMC文献进行回顾发现,截至目前,包括这三例新病例在内,已有73例新着丝粒sSMC病例被报道。其中七例未进行形态学特征描述;其余病例中,80%呈反向重复,17%呈环状,3%呈微小形状。报告的新着丝粒sSMC携带者中,81%表现出严重症状,12%表现为中度症状,8%无临床异常。总之,我们报告了另外三例新着丝粒sSMC病例,对目前已发表的所有病例进行了综述,突出了它们的特殊特征,并将它们与着丝粒sSMC进行了比较。

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