A Case of Wolf-Hirschhorn Syndrome Resulting from Familial Translocation
Journal of the Korean Pediatric Society
; : 1149-1153, 1999.
Article
em Ko
| WPRIM
| ID: wpr-201829
Biblioteca responsável:
WPRO
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).
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Palato
/
Braço
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Convulsões
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Anormalidades Urogenitais
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Cromossomos Humanos Par 4
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Fenda Labial
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Síndrome de Wolf-Hirschhorn
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Hipertelorismo
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Deficiência Intelectual
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Microcefalia
Limite:
Humans
Idioma:
Ko
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
1999
Tipo de documento:
Article