G Deletion Syndrome II
Journal of the Korean Pediatric Society
;
: 240-244, 1995.
Artículo
en Coreano
| WPRIM
| ID: wpr-178551
ABSTRACT
We experienced a case of G deletion syndrome II in a 8 year and 1 month old boy. He showed mental retardation, microcephaly, high arched palate, low set malformed ears, epicanthal fold, thoracic deformity, tracheomegaly and two lumens of esophagus. Chromosomal study showed the deletion of long arm of chromosome 22, kariotypically he was depicted as 46, XY, 22q-. A brief review of literature was also presented.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Hueso Paladar
/
Brazo
/
Anomalías Congénitas
/
Cromosomas Humanos Par 22
/
Oído
/
Esófago
/
Discapacidad Intelectual
/
Microcefalia
Límite:
Humanos
/
Masculino
/
Recién Nacido
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Año:
1995
Tipo del documento:
Artículo
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