Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
권호 표지

Monosomy 21 Mosaicism in a Child with Dyserythropoiesis

적혈구 이형성증(Dyserythropoiesis)의 소견을 보이는 부분 21-monosomy 증후군

  • Lim, Jae-Young (Department Of Pediatrics, Gyeong Sang National University, College of Medicine) ;
  • Seo, Ji-Hyoun (Department Of Pediatrics, Gyeong Sang National University, College of Medicine) ;
  • Choi, Myoung-Bum (Department Of Pediatrics, Gyeong Sang National University, College of Medicine) ;
  • Park, Chan-Hoo (Department Of Pediatrics, Gyeong Sang National University, College of Medicine) ;
  • Woo, Hyang-Ok (Department Of Pediatrics, Gyeong Sang National University, College of Medicine) ;
  • Youn, Hee-Shang (Department Of Pediatrics, Gyeong Sang National University, College of Medicine)
  • 임재영 (경상대학교 의과대학 소아과학교실) ;
  • 서지현 (경상대학교 의과대학 소아과학교실) ;
  • 최명범 (경상대학교 의과대학 소아과학교실) ;
  • 박찬후 (경상대학교 의과대학 소아과학교실) ;
  • 우향옥 (경상대학교 의과대학 소아과학교실) ;
  • 윤희상 (경상대학교 의과대학 소아과학교실)
  • Received : 2002.11.27
  • Accepted : 2003.02.07
  • Published : 2003.04.15
Download PDF
⟨ Previous Next ⟩

Abstract

All complete monosomy 21 appear to be lethal early in their development in humans and only survive in mosaic forms. Complete monosomy 21 is a very rare and usually debilitating genetic disorder. Partial monosomy 21 is also rare and is thought to constitute a clinical syndrome consisting of peculiar faces, hypertonia, psychomotor retardation, and slow growth. We experienced a case of monosomy 21 mosaicism. Chromosome analysis demonstrated mosaicism for cell lines in the lymphocytes examined; 45, XX, -21/46, XX. The main clinical features were craniofacial dysmorphism including high arched palate, submucosal cleft, micrognathia and arthrogryposis-like symptoms including flexion deformity of fingers. And hematological findings were revealed dyserythropoiesis, thrombocytopenia and eosinophilia. Currently, the patient has nearly compatible growth, but a mild degree of mental retardation. We report here an 8 years old female child with apparent monosomy 21 mosaicism associated with dyserythropoiesis, thrombocytopenia and eosinophilia, with a review of the associated literatures.

저자들은 특이한 얼굴, 근 긴장도 증가, 정신 지체와 혈액학적으로 일시적인 적혈구 이형성증(dyserythropoiesis)의 소견을 동반한 MDS 의증의 소견과 혈소판 감소증, 호산구 증가증을 동반하는 부분 21-monosomy 증후군 1례를 신생아기부터 8세까지 추적 관찰하고 보고한다. 이와 같은 예는 우리나라에서 보고되는 첫 증례라고 사료되어 간단한 문헌 고찰과 함께 보고하는 바이다.

Keywords