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Journal of the Korean Society of Neonatology 2000;7(2):194-198.
Published online January 1, 2001.
A Case of Miller-Dieker Syndrome.
Sung Jong Cho, Tong Gon Lee, Eun Young Kim, Young Ihl Noh, Sang Kee Park
Department of Pediatrics, Chosun University Medical College, Kwang-ju, Korea.
Abstract
Miller-Dieker Syndrome consists of severe type I lissencephaly and a characteristic abnormal facial appearance at birth and may progress to severe neurologic defects such as intractable seizure and growth failure. This syndrome is associated with microdeletion of p13.3 in the distal portion of chromosome 17. Lissencephaly is a brain malformation manifested by a smooth cerebral surface, thickened cortical mantle, and microscopic evidence of incomplete neuronal migration. We diagnosed Miller-Dieker syndrome in a case in which there are charcteristic craniofacial appearance and neurologic symptoms and type I lissencephaly on the MRI. : We confirmed this syndrome with the a microdeletion of p13.3 portion in the short arm of chromosome 17 by the FISH method. We have experienced a baby with this syndrome, who showed characterisic craniofacial abnormalities and a microdeletion of p13.3 portion in the short arm of chromosome 17. Then we report this rare case with brief review of literature.
Key Words: FISH, 17p13.3


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