Rearrangement of Chromosome 14q with Associated White Matter Disease

Abstract We report the case of a 29-month-old boy with spasticity and periventricular white matter changes on magnetic resonance imaging in whom a complex rearrangement consisting of a de novo duplication of 14q32.31q32.33 and deletion of 14q32.33 was identified by array-based comparative genomic hybridization. Our case replicates some of the previous features associated with chromosome 14q duplication and deletion while expanding its clinical spectrum with pyramidal tract dysfunction signs and neuroimaging features. Genomic lesions should be considered in cases of leukodystrophies, and genome-wide studies such as array-based comparative genomic hybridization could be considered in the assessment of undefined white matter disorders.