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Miller Dieker syndrome (MDS, type I lissencephaly) is a neuronal migration disorder, which is caused by deletions along the short arm of chromosome 17 (17p13.3). Recent studies would suggest that the cortical lamination in MDS is inverted, based on morphological criteria. The present neuropathological study examines the cerebral cortex from a 33-week old fetus with MDS using both neuronal and laminar-specific markers. These expression studies demonstrate a relatively preserved cortex and cortical lamination, overlying a layer of immature neurons in MDS brain. The findings are consistent with both a migratory and proliferative defect, giving rise to lissencephaly. Moreover, characterization of such rare human malformations of cortical development by immunohistochemical techniques will provide a greater understanding of the underlying mechanisms.

Original publication

DOI

10.1007/s00401-005-0010-3

Type

Journal article

Journal

Acta Neuropathol

Publication Date

05/2006

Volume

111

Pages

489 - 496

Keywords

Aborted Fetus, Abortion, Spontaneous, Cell Movement, Chromosome Deletion, Chromosomes, Human, Pair 17, Female, Humans, Male, Neocortex, Nervous System Malformations, Neurons, Pregnancy, Syndrome