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Original Article
Developmental and Behavioral Medicine
Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay
Kyung Yeon Lee, Eunsim Shin
Clin Exp Pediatr. 2017;60(9):282-289.   Published online September 21, 2017
Purpose

Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay.

Methods

We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had...

Case Report
Neurology
1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis
Dong Soo Kang, Eunsim Shin, Jeesuk Yu
Clin Exp Pediatr. 2016;59(Suppl 1):S14-S18.   Published online November 30, 2016

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000–10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of...

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

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....

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