A Case of Distal 10q Partial Trisomy Syndrome / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 391-395, 2003.
Article
Dans Coréen
| WPRIM
| ID: wpr-55927
ABSTRACT
Since Yunis and Sanchez described in 1974, distal 10q partial trisomy has been recognised as a chromosomal anomaly, which has typical features, psychomotor delays, distinctive dysmorphic appearance and growth retardation. Also, it is associated with cardiac, renal and ocular anomalies. Most of them result from an unbalanced tanslocation or a deletion but, pure duplications are very rare. We report a 19-month-old boy with typical clinical features of distal 10q partial trisomy with a pure duplicatin of 10q.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Trisomie
Limites du sujet:
Humains
/
Bébé
/
Mâle
langue:
Coréen
Texte intégral:
Journal of the Korean Child Neurology Society
Année:
2003
Type:
Article
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