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Case Report

A case of mosaic ring chromosome 13 syndrome

Soo Young Kim, Soo Min O, Mi Jeong Kim, Eun Song Song, Young Ok Kim, Young Youn Choi, Young Jong Woo, Tai Ju Hwang

Clin Exp Pediatr. 2009;52(2):242-246. Published online February 15, 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we...

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