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
Volume161A
Issue7
Pagination1686-9
Date Published2013 Jul
Abstract

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.

DOI10.1126/science.1236789
Alternate JournalAm. J. Med. Genet. A