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6p25 microdeletion: White matter abnormalities in an adult patient


Correspondence to: Hilary J Vernon, M.D., Ph.D., McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, 733 North Broadway, BRB 529, Baltimore, MD 21205.



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.