Douet-Guilbert N, Basinko A, Le Bris M-J, Herry A, Morel F, De Braekeleer M
Laboratoire d'histologie, embryologie et cytogénétique, faculté de médecine et des sciences de la santé, université de Bretagne occidentale, 22, avenue Camille-Desmoulins, 29238 Brest cedex 3, France.
Pathol Biol (Paris). 2008 Sep;56(6):362-7. doi: 10.1016/j.patbio.2008.03.012. Epub 2008 May 5.
Supernumerary marker chromosomes (SMCs) are defined as extrastructurally abnormal chromosomes which origin and composition cannot be determined by conventional cytogenetics. SMCs are an heterogeneous group of abnormalities concerning all chromosomes with variable structure and size and are associated with phenotypic heterogeneity. The characterisation of SMCs is of utmost importance for genetic counselling. Different molecular techniques are used to identify chromosomal material present in markers such as 24-colour FISH (MFISH, SKY), centromere specific multicolour FISH (cenMFISH) and derivatives (acroMFISH, subcenMFISH), comparative genomic hybridisation (CGH), arrayCGH, and targeted FISH techniques (banding techniques, whole chromosome painting...). Based on the morphology of SMC with conventional cytogenetic and clinical data, we tried to set up different molecular strategies with all available techniques.
额外标记染色体（SMCs）被定义为结构异常的额外染色体，其起源和组成无法通过传统细胞遗传学确定。SMCs是一组异质性异常，涉及所有具有可变结构和大小的染色体，并与表型异质性相关。SMCs的特征鉴定对于遗传咨询至关重要。不同的分子技术用于识别标记中存在的染色体物质，如24色荧光原位杂交（MFISH、SKY）、着丝粒特异性多色荧光原位杂交（cenMFISH）及其衍生物（acroMFISH、subcenMFISH）、比较基因组杂交（CGH）、阵列CGH和靶向荧光原位杂交技术（显带技术、全染色体涂染……）。基于传统细胞遗传学和临床数据的SMCs形态，我们尝试使用所有可用技术建立不同的分子策略。
