Voelcker Academy

Research Symposium 2011


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Britny Vale

Myelination in Children with Partial Deletions of Chromosome 18q

Britny Vale

Mentor(s): Dr. Jack L. Lancaster

18q- syndrome is a rare disorder characterized by mental retardation, dysmorphic features, growth failure, and abnormal cerebral white matter. Children with a deletion of the long arm of one of the two copies of chromosome 18 (18q) have a high incidence of dysmyelination of about 95%, as reported from MR imaging studies. Children with 18q- can be missing up to 30 Mb of DNA, a region encompassing approximately 100 known genes. All the individuals in the studies were missing a 2-Mb region of 18q23. This region contains seven known genes, one of which encodes for myelin basic protein (MBP). MBP is a key structural protein of myelin in the CNS thought to play a major role in myelin compaction; therefore, it is a logical candidate gene for the dysmyelination phenotype. A key diagnostic pattern of dysmyelination in MR imaging is low gray matter. The purpose of this study was to seek a better understanding of this GM-WM pattern in children with 18q- through modeling of myelin levels during early brain development. Models based on MR relaxation characteristics of several water components have been used to study the relationship of the myelin compartment to other WM tissue compartments

Britny Vale, Jannine D. Cody, Trevor Andrews, L. Jean Hardies, Daniel E. Hale, Peter T. Fox, Jack L. Lancaster, PhD