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A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism

Young-Jin Choi, Eunsim Shin, Tae Sik Jo, Jin-Hwa Moon, Se-Min Lee, Joo-Hwa Kim, Jae-Won Oh, Chang-Ryul Kim, In Joon Seol

Clin Exp Pediatr. 2016;59(2):91-95. Published online February 29, 2016

Crossref 1

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted....

DOI: https://doi.org/10.3345/kjp.2016.59.2.91

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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