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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

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