A Case of Wolf-Hirschhorn Syndrome Resulting from Familial Translocation
Journal of the Korean Pediatric Society
;
: 1149-1153, 1999.
Article
Dans Coréen
| 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).
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Palais
/
Bras
/
Crises épileptiques
/
Malformations urogénitales
/
Chromosomes humains de la paire 4
/
Bec-de-lièvre
/
Syndrome de Wolf-Hirschhorn
/
Hypertélorisme
/
Déficience intellectuelle
/
Microcéphalie
Limites du sujet:
Humains
langue:
Coréen
Texte intégral:
Journal of the Korean Pediatric Society
Année:
1999
Type:
Article
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