Small supernumerary marker chromosomes (sSMC) in humans
Small supernumerary marker chromosomes (sSMC) in humans
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DOI：
10.1159/000079572
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发表时间：
2004-01-01
影响因子：
1.7
通讯作者：
Starke, H
中科院分区：
文献类型：
--
作者：
Liehr, T;Claussen, U;Starke, H
小额外标记染色体（sSMC），定义为额外的中心染色体片段太小，无法单独通过显带细胞遗传学明确识别或表征，存在于0.043%的新生儿中。已经进行了几次尝试将某些sSMC与特定的临床表现相关联，导致描述了几种综合征，例如i（18 p）-，der（22）-，i（12 p）-（Pallister Killian综合征）和inv dup（22）-（猫眼）综合征。然而，大多数剩余的sSMC，包括微小的，环形的，反向重复的，以及复杂的重排的染色体，尚未与临床综合征，主要是由于其综合表征的问题。在这里，我们提出了一个概述sSMC，包括第一次尝试解决问题的命名和它们的形成模式，与镶嵌加上家族发生的问题。审查还讨论了频率sSMC在产前，产后，和临床病例，其染色体起源及其与单亲二体性。一个简短的审查最新的方法可用于sSMC表征。关于特定sSMC的存在及其表型后果的临床相关性应该很快就可以获得。版权所有（C）2004 S. Karger AG，巴塞尔。
Small supernumerary marker chromosomes (sSMC), defined as additional centric chromosome fragments too small to be identified or characterized unambiguously by banding cytogenetics alone, are present in 0.043% of newborn children. Several attempts have been made to correlate certain sSMC with a specific clinical picture, resulting in the description of several syndromes such as the i(18p)-, der(22)-, i(12p)-(Pallister Killian syndrome) and inv dup(22)-(cat-eye) syndromes. However, most of the remaining sSMC including minute, ring-, inverted-duplication-as well as complex-rearranged chromosomes, have not yet been correlated with clinical syndromes, mostly due to problems in their comprehensive characterization. Here we present an overview of sSMC, including the first attempt to address problems of nomenclature and their modes of formation, problems connected with mosaicism plus familial occurrence. The review also discusses the frequency of sSMC in prenatal, postnatal, and clinical cases, their chromosomal origin and their association with uniparental disomy. A short review of the up-to-date approaches available for sSMC characterization is included. Clinically relevant correlations concerning the presence of a specific sSMC and its phenotypic consequences should become available soon. Copyright (C) 2004 S. Karger AG, Basel.