Small supernumerary marker chromosomes progress towards a genotype-phenotype correlation
Small supernumerary marker chromosomes progress towards a genotype-phenotype correlation
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DOI：
10.1159/000087510
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发表时间：
2006-01-01
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;Mrasek, K;Starke, H
小额外标记染色体（Small supernumerary marker chromosomes，sSMC）是临床细胞遗传学中的一个主要问题，因为它们太小而不能通过传统的显带技术来表征它们的染色体起源，但需要分子细胞遗传学技术来鉴定它们。除了约三分之一的sSMC病例与特定临床表现相关外，即i（18 p）、der（22）、i（12 p）（Pallister Killian综合征）和inv dup（22）（猫眼）综合征，其余大多数sSMC尚未与临床综合征相关。最近，我们审查了可用的11600例sSMC病例（Liehr T，sSMC主页：http://mti-n.mti.uni-jena.de/similar至huwww/MOL_ZYTO/sSMC.htm）。共有387例（包括这里报告的45例新病例）的分子细胞遗传学特征与他们的染色体起源，常染色质，异染色质和卫星材料的存在。基于对这些病例的分析，我们提出了除了Y、10、11和13号染色体之外的所有人类染色体的sSMC的基本基因型-表型相关性的初稿。版权所有（c）2006 S. Karger AG，巴塞尔
Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they are too small to be characterized for their chromosomal origin by traditional banding techniques, but require molecular cytogenetic techniques for their identification. Apart from the correlation of about one third of the sSMC cases with a specific clinical picture, i.e. the i(18p), der( 22), i(12p) (Pallister Killian syndrome) and inv dup( 22) ( cat-eye) syndromes, most of the remaining sSMC have not yet been correlated with clinical syndromes. Recently, we reviewed the available 11600 sSMC cases (Liehr T, sSMC homepage: http://mti-n.mti.uni-jena.de/similar to huwww/MOL_ZYTO/sSMC.htm). A total of 387 cases ( including the 45 new cases reported here) have been molecularly cytogenetically characterized with regard to their chromosomal origin, the presence of euchromatin, heterochromatin and satellite material. Based on analysis of these cases we present the first draft of a basic genotype-phenotype correlation for sSMC for all human chromosomes apart from the chromosomes Y, 10, 11 and 13. Copyright (c) 2006 S. Karger AG, Basel