6p25 microdeletion: White matter abnormalities in an adult patient

Hilary J. Vernon, Aida Bytyci Telegrafi, Denise Batista, Margaret Owegi, Richard Leigh

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


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 languageEnglish (US)
Pages (from-to)1686-1689
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number7
StatePublished - Jul 2013


  • Axenfeld-Reiger
  • FOXC1
  • Leukoencephalopathy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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