Journal of Yeungnam Medical Science

Yeungnam University College of Medicine, Yeungnam University Institute Medical Science (영남대 의대 학술지 편집위원회)
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Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report

  • Jeong A Ham (Department of Rehabilitation Medicine, DMC Bundang Jesaeng Hospital) ;
  • Sung Hyun Kim (Department of Rehabilitation Medicine, DMC Bundang Jesaeng Hospital) ;
  • Donghwi Park (Department of Physical Medicine and Rehabilitation, Ulsan University Hospital, University of Ulsan College of Medicine)
  • Received : 2022.07.13
  • Accepted : 2022.10.13
  • Published : 2023.10.31
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Abstract

Septo-optic dysplasia (SOD) is a rare congenital anomaly that is clinically defined by developmental delay and characteristic brain magnetic resonance imaging findings, including optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. The occurrence of SOD is generally sporadic; however, it can be inherited rarely. Although an association with HESX1, SOX2, and SOX3 mutations has been identified, the detailed etiology is multifactorial and unclear. Here, we present the case of a 7-year-old girl who was clinically diagnosed with SOD and 15q13.3 duplication. Patients with duplication at chromosome 15q13.3 were reported to be diagnosed with autism spectrum disorder, epilepsy, and schizophrenia in previous studies. The relationship between SOD and the microduplication of 15q13.3 has not yet been explored. In this study, we suggest that there may be an association between chromosome 15q13.3 microduplication and SOD.

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References

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