通过荧光原位杂交（FISH）对额外环状标记染色体进行特征分析。
Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).
作者信息
Blennow E, Annerén G, Bui T H, Berggren E, Asadi E, Nordenskjöld M
机构信息
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
出版信息
Am J Hum Genet. 1993 Aug;53(2):433-42.
Five cases with small supernumerary ring chromosomes are characterized at the molecular level. Routine chromosome banding analysis was insufficient for identification of the ring chromosomes, and none of them was DA/DAPI positive. Fluorescence in situ hybridization utilizing repetitive centromeric probes for all chromosomes has determined that one of these five ring chromosomes originates in each of chromosomes 4, 7, 8, 9, and 20. Chromosome painting with chromosome-specific libraries has confirmed this and excluded the involvement of additional chromosomes in the rearrangements.
对五例携带小额外环状染色体的病例进行了分子水平的特征分析。常规染色体显带分析不足以鉴定环状染色体，且它们均非DA/DAPI阳性。利用针对所有染色体的重复性着丝粒探针进行荧光原位杂交已确定这五条环状染色体中的一条分别起源于4号、7号、8号、9号和20号染色体。使用染色体特异性文库进行染色体描绘已证实了这一点，并排除了其他染色体参与重排的可能性。
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