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

• Main Authors: Young-Jin Choi (Author), Eunsim Shin (Author), Tae Sik Jo (Author), Jin-Hwa Moon (Author), Se-Min Lee (Author), Joo-Hwa Kim (Author), Jae-Won Oh (Author), Chang-Ryul Kim (Author), In Joon Seol (Author)
• Format: Book
• Published: Korean Pediatric Society, 2016-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 d...