Neonatal Medicine

  • 제27권4호
  • /
  • Pages.207-213
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  • 2020
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  • 2287-9412(pISSN)
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  • 2287-9803(eISSN)
대한신생아학회 (The Korean Society of Neonatology)
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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

  • Kwon, Jae Hyuk (Department of Pediatrics, Konyang University College of Medicine) ;
  • Song, Young Hwa (Department of Pediatrics, Konyang University College of Medicine) ;
  • Yoon, Jung Min (Department of Pediatrics, Konyang University College of Medicine) ;
  • Cheon, Eun Jung (Department of Pediatrics, Konyang University College of Medicine) ;
  • Ko, Kyung Ok (Department of Pediatrics, Konyang University College of Medicine) ;
  • Lim, Jae Woo (Department of Pediatrics, Konyang University College of Medicine) ;
  • Kim, Hyon J. (Department of Medical Genetics, Konyang University College of Medicine)
  • 투고 : 2020.08.18
  • 심사 : 2020.10.06
  • 발행 : 2020.11.30
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초록

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

과제정보

This study was funded by the Genetic Counseling Service Support Funding from the Korean Foundation for Rare Disease.

참고문헌

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