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Neuroradiographic findings in 22q11.2 deletion syndrome
22q11.2 deletion syndrome (22q11.2DS) is a common genetic disorder with enormous phenotypic heterogeneity. Despite the established prevalence of developmental and neuropsychiatric issues in this syndrome, its neuroanatomical correlates are not as well understood. A retrospective chart review was performed on 111 patients diagnosed with 22q11.2DS. Of the 111 patients, 24 with genetically confirmed 22q11.2 deletion and brain MRI or MRA were included in this study. The most common indications for imaging were unexplained developmental delay (6/24), seizures of unknown etiology (5/24), and unilateral weakness (3/24). More than...
Source: American Journal of Medical Genetics Part A - June 3, 2017 Category: Genetics & Stem Cells Authors: Lauren A. Bohm, Tom C. Zhou, Tyler J. Mingo, Sarah L. Dugan, Richard J. Patterson, James D. Sidman, Brianne B. Roby Tags: ORIGINAL ARTICLE Source Type: research
