Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Partial trisomy of chromosome 18q11.2-q12: A case report

18q11.2-q12 부분 삼염색체 1예

  • Cho, Ah Ra (Departments of Laboratory Medicine, College of Medicine, Chung Ang University) ;
  • Kim, Hye Ryoun (Departments of Laboratory Medicine, College of Medicine, Chung Ang University) ;
  • Lee, Mi Kyung (Departments of Laboratory Medicine, College of Medicine, Chung Ang University) ;
  • Yun, Sin Weon (Departments of Pediatrics, College of Medicine, Chung Ang University) ;
  • Lee, Jung Ju (Departments of Pediatrics, College of Medicine, Chung Ang University)
  • 조아라 (중앙대학교 의과대학 진단검사의학교실) ;
  • 김혜련 (중앙대학교 의과대학 진단검사의학교실) ;
  • 이미경 (중앙대학교 의과대학 진단검사의학교실) ;
  • 윤신원 (중앙대학교 의과대학 소아과학교실) ;
  • 이정주 (중앙대학교 의과대학 소아과학교실)
  • Received : 2009.07.06
  • Accepted : 2009.09.11
  • Published : 2009.10.15
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Abstract

Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include cardiac malformations, mental retardation, growth retardation, specific craniofacial anomalies, clenched hands, rocker-bottom feet, and omphalocele. Compared with the classic Edwards syndrome, the symptom of partial duplication of chromosome 18 is relatively mild with a good prognosis. We report the case of a baby with partial duplication 18q11.2-q12. The characteristic phenotype features of Edwards syndrome were observed in the patient. However, the symptom was milder than the typical Edwards syndrome. At present, we can expect better prognosis for this patient.

에드워드 증후군이라 불리는 삼염색체 18은 실제 생존율이 매우 낮으며 생존한 태아도 복합적 기형과 심한 발육지연으로 생존 태아의 90%는 생후 1년 내에 사망하는 것으로 알려져 있다. 18번 염색체의 전체중복이 주된 원인이며, 부분중복 역시 중복된 부위에 따라 어느 정도 차이는 있으나 에드워드 증후군의 특징적인 임상 양상을 나타낸다. 18번 염색체의 q12.1-q21.2, q22.3-qter부위가 에드워드 증후군의 표현형을 결정하는 부위일 것이라 생각되며 이중 일부만 중복되었을 경우 가벼운 임상 양상 및 좋은 예후를 예측할 수 있다. 본 증례에서 환아는 에드워드 증후군의 표현형을 결정하는 18번 염색체의 q12부위가 포함되어 있는 q11.2-12부위에 부분중복이 관찰되었다. 환아는 전형적인 에드워드 증후군 환자보다 훨씬 가벼운 임상 증상과 높은 생존율이 기대되므로 이와 같이 보고하는 바이다.

Keywords

References

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