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6p25 microdeletion: White matter abnormalities in an adult patient
Author(s) -
Ver Hilary J.,
Bytyci Telegrafi Aida,
Batista Denise,
Owegi Margaret,
Leigh Richard
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35937
Subject(s) - white matter , genetic testing , medical genetics , medicine , leukoencephalopathy , pediatrics , audiology , genetics , pathology , biology , magnetic resonance imaging , gene , radiology , disease
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.