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KMID : 1101320090410010006
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Korean Journal of Clinical Laboratory Science
2009 Volume.41 No. 1 p.6 ~ p.10
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A Case of Mosaic Ring Chromosome 4 Diagnosed by FISH Technique
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Yun Sook-Kyung
Lim Min-Hye
Kim Sil-Kyung
Cho Hyoun-Chan
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Abstract
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Ring chromosome occurs when both telomeres of a chromosome are lost and the remaining portion of the chromosome circularizes to re-establish chromosome stability. This abnormal structure shows mitotic instability unlike the normal chromosomes, causing problems during mitosis. Here, we report one case of "chromosome 4 ring syndrome" on a 6-month-old male patient with growth retardation. Ring chromosome, monosomy, dicentric chromosome were shown by conventional chromosome analysis using peripheral blood. Peripheral blood was used and incubated for 72 hours for chromosome analysis. 3 probes (LSI WHS SpectrumOrange/CEP 4 SpectrumGreen, 4p subtelomere probe, 4q subtelomere probe) were used to detect the origin and breakpoint of ring chromosome 4 by FISH (fluorescense in situ hybridization) technique.
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KEYWORD
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Ring chromosome, Telomeres, Mitosis, Monosomy, Dicentric chromosome, Fluorescense in situhybridization technique
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