Monosomy 21 Mosaicism in a Child with Dyserythropoiesis
Journal of the Korean Pediatric Society
;
: 397-399, 2003.
Article
Dans Coréen
| WPRIM
| ID: wpr-121358
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Palais
/
Malformations
/
Thrombopénie
/
Lymphocytes
/
Lignée cellulaire
/
Délétion de segment de chromosome
/
Éosinophilie
/
Doigts
/
Déficience intellectuelle
/
Monosomie
Limites du sujet:
Enfant
/
Femelle
/
Humains
langue:
Coréen
Texte intégral:
Journal of the Korean Pediatric Society
Année:
2003
Type:
Article
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