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KMID : 0384119940140020224
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Korean Journal of Clinical Pathology
1994 Volume.14 No. 2 p.224 ~ p.227
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A Case of A Ring Chromosome 13
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최석우
민혁기/이존기/임찬빈/권계철/구선회/박종우
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Abstract
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In 1962, Wang described the first case of a ring chromosome 13 and in 1978 Yunis classified ring chromosomes into four categories according to clinical symptoms and the point of deletion of the ring(13).
The karyotyping of patients by the G-banding technique was expressed to 46, XY,r(13). To detect the origin and breakpoint of the ring chromosome, we performed fluorescence insitu hybridization using a biotin-labelled α-satellite DNA probe(loci
D21NZ1/D13Z1) and finally could identified ring chromosome 13.
We report a case of a ring chromosome 13 in one week old male neonate which belongs to Category 2 of Yunis classification.
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