6p25 microdeletion: White matter abnormalities in an adult patient. Issue 7 (17th May 2013)

• Record Type: Journal Article
• Authors: Vernon, Hilary J.; Bytyci Telegrafi, Aida; Batista, Denise; Owegi, Margaret; Leigh, Richard
• Is Part Of: American journal of medical genetics. Volume 161:Issue 7(2013:Jul.)
• Page Start: 1686
• Page End: 1689
• Publication Date: 2013-05-17
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35937
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35937-sec-0001" sec-type="section"> <p>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.</p> </sec> </abstract>