A Case of Distal 10q Partial Trisomy Syndrome / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 391-395, 2003.
Artículo
en Coreano
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Trisomía
Límite:
Humanos
/
Lactante
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Año:
2003
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS