Clinical and Experimental Pediatrics

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Jin-Yeong Han (Han JY)

1 Article

Case Report

De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case

Ha-Su Kim, Jin-Yeong Han, Myo-Jing Kim

Clin Exp Pediatr. 2015;58(8):313-316. Published online August 21, 2015

Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week gestation. He presented with hypotonia, sensory and neural hearing loss, dysmorphism with...

DOI: https://doi.org/10.3345/kjp.2015.58.8.313

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