Utility of molecular studies in incontinentia pigmenti patients.
Artículo
en Inglés
| IMSEAR
| ID: sea-135673
ABSTRACT
The diagnosis of incontinentia pigmenti (IP) is fairly easy in the presence of classical features, but can be difficult in cases with partial or non-classical features, especially in the parents. The demonstration that the disease is caused by mutations in the NEMO gene, has remarkably improved genetic counselling for this disorder. We present four families of IP in whom molecular studies established an unequivocal diagnosis in the affected daughters, and showed two mothers to be carriers, thus allowing accurate genetic counselling and prenatal diagnosis.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Linaje
/
Complicaciones del Embarazo
/
Diagnóstico Prenatal
/
Incontinencia Pigmentaria
/
Femenino
/
Humanos
/
Embarazo
/
Núcleo Familiar
/
Niño
/
Preescolar
Tipo de estudio:
Estudio diagnóstico
Idioma:
Inglés
Año:
2011
Tipo del documento:
Artículo
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