使用荧光原位杂交技术鉴定源自5号、6号、19号和20号染色体的额外标记染色体。
Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.
作者信息
Stankiewicz P, Bocian E, Jakubów-Durska K, Obersztyn E, Lato E, Starke H, Mroczek K, Mazurczak T
机构信息
Department of Genetics, National Research Institute of Mother and Child, Kasprzaka 17A, 01-211 Warsaw, Poland.
出版信息
J Med Genet. 2000 Feb;37(2):114-20. doi: 10.1136/jmg.37.2.114.
A large number of cases with supernumerary marker chromosomes (SMCs) should be compared to achieve a better delineation of karyotype-phenotype correlations. Here we present four phenotypically abnormal patients with autosomal marker chromosomes analysed by fluorescence in situ hybridisation using centromeric, telomeric, and unique sequence probes, as well as forward and reverse painting. We also report the first case, to the best of our knowledge, of an SMC derived from chromosome 5. Furthermore, a marker chromosome 20 in a patient with sex differentiation abnormalities, a double mar(6) in a boy with psychomotor retardation, and the association of r(19) with dup(21q21.2q22.12) are described. Although the mar(6) was very small, the presence of euchromatin was shown, suggesting that the partial trisomy of pericentric region derived sequences is implicated in the aetiology of the abnormal phenotypes.
应比较大量具有额外标记染色体（SMC）的病例，以更好地描绘核型与表型的相关性。在此，我们展示了4例表型异常的常染色体标记染色体患者，通过使用着丝粒、端粒和独特序列探针的荧光原位杂交以及正向和反向染色体涂染进行分析。据我们所知，我们还报告了首例源自5号染色体的SMC病例。此外，还描述了1例性分化异常患者的20号标记染色体、1例精神运动发育迟缓男孩的双6号标记染色体，以及19号环状染色体与21号染色体21.2q22.12区域重复的关联。尽管6号标记染色体非常小，但显示出常染色质的存在，提示着丝粒周围区域衍生序列的部分三体性与异常表型的病因有关。
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