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
Artigo
em Inglês
| 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.
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Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian J Hum Genet
Ano de publicação:
2006
Tipo de documento:
Artigo
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