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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

Crossref 3

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...

DOI: https://doi.org/10.3345/kjp.2016.59.11.S14

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