We report on a 41-year-old woman of normal intelligence with a complicated past medical history including unilateral profound hearing loss, unilateral Axenfeld-Rieger anomaly, and leukoencephalopathy. She was referred to an adult neurology clinic because of a previous diagnosis of multiple sclerosis, which was non-responsive to multiple medications. Due to her complicated past medical history, the medical genetics service was consulted. She was found to have a chromosome 6p25.3-6p25.2 deletion on SNP array. This report highlights chromosome 6p subtelomeric deletions as a possible underlying cause for periventricular white matter abnormalities in an adult. It emphasizes the importance of genetic testing in an adult with leukoencephalopathy and congenital anomalies. © 2013 Wiley Periodicals, Inc.
CITATION STYLE
Vernon, H. J., Bytyci Telegrafi, A., Batista, D., Owegi, M., & Leigh, R. (2013). 6p25 microdeletion: White matter abnormalities in an adult patient. American Journal of Medical Genetics, Part A, 161(7), 1686–1689. https://doi.org/10.1002/ajmg.a.35937
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