Case Report Neonatal Med 2020 November;27(4):207-213 https://doi.org/10.5385/nm.2020.27.4.207 pISSN 2287-9412 . eISSN 2287-9803 14q12q13.3 Deletion Diagnosed Using Chromo somal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay Jae Hyuk Kwon, MD1, Young Hwa Song, MD1, Jung Min Yoon, MD1, Eun Jung Cheon, MD1, Kyung Ok Ko, MD1, Jae Woo Lim, MD1, and Hyon J. Kim, MD, FACMG2 Departments of 1Pediatrics and 2Medical Genetics, Konyang University College of Medicine, Daejeon, Korea ABSTRACT Received: 18 August 2020 Revised: 25 September 2020 14q12q13.3 Deletion is a rare microdeletion syndrome associated with neurodevelop Accepted: 6 October 2020 mental delay, failure to thrive, seizures, and abnormal brain development. Symptoms Correspondence to: Hyon J. Kim, MD vary depending on the sites of gene deletion, and establishing the diagnosis is often Department of Medical Genetics, difficult, as the condition cannot be detected with routine chromosome analysis. In Konyang University College of Medi this report, we present a patient with intrauterine growth retardation, microcephaly, cine, 158 Gwanjeodongro, Seogu, muscle weakness, seizures, and hypoplasia of the corpus callosum who underwent Daejeon 35365, Korea diagnostic tests, including karyotyping in the neonatal period without leading to a Tel: +82426009230 specific diagnosis. The patient was confirmed with a serious developmental disorder, Fax: +82426009090 and a chromosomal microarray analysis was performed at 8 months of age, revealing Email:
[email protected] a 14q12q13.3 deletion. In this case, the condition was diagnosed in early infancy, in contrast to previously reported cases, and the patient had diverse and severe symptoms.