All issues > Volume 46(4); 2003

Case Report

J Korean Pediatr Soc. 2003;46(4):397-399. Published online April 15, 2003.

Monosomy 21 Mosaicism in a Child with Dyserythropoiesis

Jae-Young JY Lim¹, Ji-Hyoun JH Seo¹, Myoung-Bum MB Choi¹, Chan-Hoo CH Park¹, Hyang-Ok HO Woo¹, Hee-Shang HS Youn¹

¹Department Of Pediatrics, Gyeong Sang National University, College of Medicine, Jinju, Korea

Correspondence Jae-Young JY Lim ,Email: pedneu@chollian.net

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.

Keywords :Monosomy 21, Mosaicism, Dyserythropoiesis, Thrombocytopenia, Eosinophilia