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14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay

Neonatal Medicine 2020년 27권 4호 p.207 ~ 213
권재혁, 송영화, 윤정민, 천은정, 고경옥, 임재우, 김현주,
소속 상세정보
권재혁 ( Kwon Jae-Hyuk ) - Konyang University College of Medicine Department of Pediatrics
송영화 ( Song Young-Hwa ) - Konyang University College of Medicine Department of Pediatrics
윤정민 ( Yoon Jung-Min ) - Konyang University College of Medicine Department of Pediatrics
천은정 ( Cheon Eun-Jung ) - Konyang University College of Medicine Department of Pediatrics
고경옥 ( Ko Kyung-Ok ) - Konyang University College of Medicine Department of Pediatrics
임재우 ( Lim Jae-Woo ) - Konyang University College of Medicine Department of Pediatrics
김현주 ( Kim Hyon-J. ) - Konyang University College of Medicine Department of Medical Genetics

Abstract


14q12q13.3 Deletion is a rare microdeletion syndrome associated with neurodevelopmental delay, failure to thrive, seizures, and abnormal brain development. Symptoms vary depending on the sites of gene deletion, and establishing the diagnosis is often difficult, as the condition cannot be detected with routine chromosome analysis. In this report, we present a patient with intrauterine growth retardation, microcephaly, muscle weakness, seizures, and hypoplasia of the corpus callosum who underwent diagnostic tests, including karyotyping in the neonatal period without leading to a specific diagnosis. The patient was confirmed with a serious developmental disorder, and a chromosomal microarray analysis was performed at 8 months of age, revealing 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. Establishing the diagnosis of 14q12q13.3 deletion syndrome allows better management of patient care and genetic counseling for the parents.

키워드

Microdeletion 14q12q13.3; Chromosomal microarray; Developmental delay; Failure to thrive; Genetic counseling

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