Journal of the Korean Pediatric Society 2003;46(4):397-399.
Published online April 15, 2003.
Monosomy 21 Mosaicism in a Child with Dyserythropoiesis
Jae-Young Lim, Ji-Hyoun Seo, Myoung-Bum Choi, Chan-Hoo Park, Hyang-Ok Woo, Hee-Shang Youn
Department Of Pediatrics, Gyeong Sang National University, College of Medicine, Jinju, Korea
적혈구 이형성증(Dyserythropoiesis)의 소견을 보이는 부분 21-monosomy 증후군
임재영, 서지현, 최명범, 박찬후, 우향옥, 윤희상
경상대학교 의과대학 소아과학교실
Jae-Young Lim, Email:
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.
Key Words: Monosomy 21, Mosaicism, Dyserythropoiesis, Thrombocytopenia, Eosinophilia

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