Monosomy 21 Mosaicism in a Child with Dyserythropoiesis.
- Author:
Jae Young LIM
1
;
Ji Hyoun SEO
;
Myoung Bum CHOI
;
Chan Hoo PARK
;
Hyang Ok WOO
;
Hee Shang YOUN
Author Information
1. Department Of Pediatrics, Gyeong Sang National University, College of Medicine, Jinju, Korea. pedneu@chollian.net
- Publication Type:Case Report
- Keywords:
Monosomy 21;
Mosaicism;
Dyserythropoiesis;
Thrombocytopenia;
Eosinophilia
- MeSH:
Cell Line;
Child*;
Chromosome Deletion;
Congenital Abnormalities;
Eosinophilia;
Female;
Fingers;
Humans;
Intellectual Disability;
Lymphocytes;
Monosomy*;
Mosaicism*;
Palate;
Thrombocytopenia
- From:Journal of the Korean Pediatric Society
2003;46(4):397-399
- CountryRepublic of Korea
- Language:Korean
-
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.
