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6p25 microdeletion: white matter abnormalities in an adult patient.
|Title||6p25 microdeletion: white matter abnormalities in an adult patient.|
|Publication Type||Journal Article|
|Year of Publication||2013|
|Authors||Vernon HJ, Bytyci Telegrafi A, Batista D, Owegi M, Leigh R|
|Journal||American journal of medical genetics. Part A|
|Date Published||2013 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 Journal||Am. J. Med. Genet. A|