Lissencephaly child showing FISH negative and mutation in DCX gene with normal parental genetic makeup.
Indian J Hum Genet
;
2006 May; 12(2): 93-95
Article
Dans Anglais
| IMSEAR
| ID: sea-143305
ABSTRACT
Lissencephaly is a clinically and genetically heterogeneous malformation of the brain, leading to a severe disabling condition and seizures. The recent discovery of molecular techniques and identification of lissencephaly genes (LIS 1 and DCX) has allowed etiologic diagnosis of this disorder. We describe a patient with lissencephaly in whom fluorescence in situ hybridization and DCX mutation analysis determined etiologic diagnosis, allowing precise genetic counseling and providing prenatal diagnosis for the family.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
langue:
Anglais
Texte intégral:
Indian J Hum Genet
Année:
2006
Type:
Article
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