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.
Original language | English (US) |
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Pages (from-to) | 1686-1689 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics, Part A |
Volume | 161 |
Issue number | 7 |
DOIs | |
State | Published - Jul 2013 |
Keywords
- Axenfeld-Reiger
- FOXC1
- Leukoencephalopathy
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)