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She was referred to an adult neurology clinic because of a previous diagnosis of multiple sclerosis, which was non\u2010responsive 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\u20136p25.2 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. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35937","type":"journal-article","created":{"date-parts":[[2013,5,17]],"date-time":"2013-05-17T18:06:44Z","timestamp":1368814004000},"page":"1686-1689","source":"Crossref","is-referenced-by-count":21,"title":["6p25 microdeletion: White matter abnormalities in an adult patient"],"prefix":"10.1002","volume":"161","author":[{"given":"Hilary J.","family":"Vernon","sequence":"first","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University Baltimore, Maryland"},{"name":"Department of Pediatrics Johns Hopkins University Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aida","family":"Bytyci Telegrafi","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Batista","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University Baltimore, Maryland"},{"name":"Department of Pathology Johns Hopkins University Baltimore, Maryland"},{"name":"Cytogenetics Laboratory Kennedy Krieger Institute Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Owegi","sequence":"additional","affiliation":[{"name":"Department of Neurology Johns Hopkins University Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Leigh","sequence":"additional","affiliation":[{"name":"Department of Neurology Johns Hopkins University Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,5,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.422"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35416"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30127"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050911"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35548"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30156"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30573"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200460"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/1040-8428(94)00151-I"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13312-011-0108-8"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(98)00123-3"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30274"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/493"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000343049.00540.c8"},{"key":"e_1_2_6_16_1","first-page":"586","article-title":"Cerebral white matter abnormalities in 6p25 deletion syndrome","volume":"27","author":"van der Knaap Kriek M","year":"2006","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.112.664854"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0702618104"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35937","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35937","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:53:26Z","timestamp":1697615606000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35937"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,17]]},"references-count":17,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["10.1002\/ajmg.a.35937"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35937","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,17]]}}}