Article
Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15.
American journal of medical genetics. Part A - 15 Dec 2006
Boyles Abee L, Enterline David S, Hammock Preston H, Siegel Deborah G, Slifer Susan H, Mehltretter Lorraine, Gilbert John R, Hu-Lince Diane, Stephan Dietrich, Batzdorf Ulrich, Benzel Edward, Ellenbogen Richard, Green Barth A, Kula Roger, Menezes Arnold, Mueller Diane, Oro' John J, Iskandar Bermans J, George Timothy M, Milhorat Thomas H, Speer Marcy C
Abstract excerpt
Chiari type I malformation (CMI; OMIM 118420) is narrowly defined when the tonsils of the cerebellum extend below the foramen magnum, leading to a variety of neurological symptoms. It is widely thought that a small posterior fossa (PF) volume, relative to the total cranial volume leads to a cramped cerebellum and herniation of the tonsils into the top of the spinal column. In a collection of magnetic resonance...
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