Lissencephaly child showing FISH negative and mutation in DCX gene with normal parental genetic makeup.
Loading...
Date
2006-05
Journal Title
Journal ISSN
Volume Title
Publisher
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.
Description
Keywords
DCX gene mutation, lissencephaly, Miller-Dieker syndrome, smooth brain
Citation
Gupta Bhushan V, Verma Sohani, Raina V P, Iravathy Goud K. Lissencephaly child showing FISH negative and mutation in DCX gene with normal parental genetic makeup. Indian Journal of Human Genetics. 2006 May; 12(2): 93-95.