6p25 microdeletion: white matter abnormalities in an adult patient.

Title6p25 microdeletion: white matter abnormalities in an adult patient.
Publication TypeJournal Article
Year of Publication2013
AuthorsVernon HJ, Bytyci Telegrafi A, Batista D, Owegi M, Leigh R
JournalAmerican journal of medical genetics. Part A
Date Published2013 Jul

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.

Alternate JournalAm. J. Med. Genet. A