A Case of Wolf-Hirschhorn Syndrome Resulting from Familial Translocation
Journal of the Korean Pediatric Society
;
: 1149-1153, 1999.
Artículo
en Coreano
| WPRIM
| ID: wpr-201829
ABSTRACT
Wolf-Hirschhorn syndrome is caused by a partial loss of the distal short arm of chromosome 4. Characteristic clinical features are severe growth retardation, mental retardation, seizures, congenital cardiac defects, urogenital abnormalities, microcephaly, hypertelorism, prominent glabella, cleft lip and palate and micrognathia. In 87% of cases, chromosome 4 deletion arises as a de novo event, whereas in the remaining cases it is derived from a familial balanced translocation. Chromosomal study of the patient showed 46 XX der(4)t(4;18)(p15.2;q23), and the patient's mother was found to have a balanced translocation, 46 XX t(4;18)(p15.2;q23).
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Hueso Paladar
/
Brazo
/
Convulsiones
/
Anomalías Urogenitales
/
Cromosomas Humanos Par 4
/
Labio Leporino
/
Síndrome de Wolf-Hirschhorn
/
Hipertelorismo
/
Discapacidad Intelectual
/
Microcefalia
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Año:
1999
Tipo del documento:
Artículo
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