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

Mark McIntosh,'s picture
PubMed URL: 
http://www.ncbi.nlm.nih.gov/pubmed/23686687
Author: 
Leigh R
Author List: 
Vernon HJ
Bytyci Telegrafi A
Batista D
Owegi M
Leigh R
Journal: 
Am J Med Genet A
PubMed ID: 
23686687
Pagination: 
1686-9
Volume: 
161A
Issue: 
7
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.
Published Date: 
July, 2013

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