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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 12, No. 2, 2006, pp. 93-95
Bioline Code: hg06016
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 12, No. 2, 2006, pp. 93-95

 en Case Report - Lissencephaly child showing FISH negative and mutation in DCX gene with normal parental genetic makeup
Gupta BhushanV, Verma Sohani, Raina VP, Iravathy GoudK


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.

DCX gene mutation, lissencephaly, Miller-Dieker syndrome, smooth brain

© Copyright 2006 Indian Journal of Human Genetics.
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