Liehr T, Mrasek K, Weise A, Dufke A, Rodríguez L, Martínez Guardia N, Sanchís A, Vermeesch J R, Ramel C, Polityko A, Haas O A, Anderson J, Claussen U, von Eggeling F, Starke H
Institut für Humangenetik und Anthropologie, Jena, Germany.
Cytogenet Genome Res. 2006;112(1-2):23-34. doi: 10.1159/000087510.
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 >1600 sSMC cases (Liehr T, sSMC homepage: http://mti-n.mti.uni-jena.de/~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.
小额外标记染色体(sSMC)仍是临床细胞遗传学中的一个主要问题,因为它们太小,无法通过传统的显带技术确定其染色体来源,而需要分子细胞遗传学技术来进行鉴定。除了约三分之一的sSMC病例与特定临床表型相关,即i(18p)、der(22)、i(12p)(帕利斯特-基利安综合征)和inv dup(22)(猫眼)综合征外,其余大多数sSMC尚未与临床综合征相关联。最近,我们回顾了超过1600例sSMC病例(利尔T,sSMC主页:http://mti-n.mti.uni-jena.de/~huwww/MOL_ZYTO/sSMC.htm)。共有387例病例(包括本文报告的45例新病例)在染色体来源、常染色质、异染色质和卫星物质的存在方面进行了分子细胞遗传学特征分析。基于对这些病例的分析,我们给出了除Y、10、11和13号染色体外所有人类染色体sSMC基本基因型-表型相关性的初稿。