{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T03:56:26Z","timestamp":1767239786112},"reference-count":24,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,6,3]],"date-time":"2013-06-03T00:00:00Z","timestamp":1370217600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Victorian Government Operational Infrastructure Support Program"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>Despite advances in medical investigation, many children with neurological conditions remain without a diagnosis, although a genetic aetiology is often suspected. Chromosomal microarray (<jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content>) screens for copy number variants (<jats:styled-content style=\"fixed-case\">CNVs<\/jats:styled-content>) and long continuous stretches of homozygosity (<jats:styled-content style=\"fixed-case\">LCSH<\/jats:styled-content>) and may further enhance diagnostic yield. Although recent studies have identified pathogenic <jats:styled-content style=\"fixed-case\">CNVs<\/jats:styled-content> in intellectual disability, autism and epilepsy, the utility of <jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content> testing in a broader cohort of children with neurologic disorders has not been reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two hundred fifteen patients with neurological conditions of unknown aetiology were seen over a 6\u2010month period and were prospectively tested by <jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content> using high\u2010resolution single nucleotide polymorphism (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>) microarrays (<jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>llumina <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>uman<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>yto<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u201012 v2.1 or Affymetrix 2.7<jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty of 215 (14%) patients tested had an abnormal <jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content>. Twenty\u2010nine had <jats:styled-content style=\"fixed-case\">CNVs<\/jats:styled-content> (13%) and one (0.5%) a clinically significant stretch of homozygosity. Twenty (9.3%) had a <jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content> finding considered to be pathogenic or involved in susceptibility to the condition of interest, and 10 (4.7%) had findings of unknown significance. Their phenotypes included infantile spasms and other epilepsies, neuromuscular conditions, ataxia, movement disorders, microcephaly and malformations of cortical development. At least one third of patients did not meet national funding criteria for <jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content> at the time of presentation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">CMA<\/jats:styled-content> detected clinically significant abnormalities in a broad range of neurologic phenotypes of unknown aetiology. This test should be considered a first\u2010tier investigation of children with neurologic disorders in whom the initial clinical assessment does not indicate a likely aetiology, especially those with severe epilepsies and neurologically abnormal neonates.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jpc.12256","type":"journal-article","created":{"date-parts":[[2013,6,3]],"date-time":"2013-06-03T12:44:49Z","timestamp":1370263489000},"page":"716-724","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["High resolution chromosomal microarray in undiagnosed neurological disorders"],"prefix":"10.1111","volume":"49","author":[{"given":"Katherine B","family":"Howell","sequence":"first","affiliation":[{"name":"Department of Neurology Royal Children's Hospital  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew 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