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Case Report

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

Clin Exp Pediatr. 2003;46(4):397-399. Published online April 15, 2003

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...

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