{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T16:56:58Z","timestamp":1789750618787,"version":"4.0.1"},"reference-count":43,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2006,6]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, dysmorphic features, ataxia, seizures, and typical behavioural characteristics, including a happy sociable disposition. AS is caused by maternal deficiency of <jats:italic>UBE3A<\/jats:italic> (E6 associated protein ubiquitin protein ligase 3A gene), located in an imprinted region on chromosome 15q11-q13. Although there are four different molecular types of AS, deletions of the 15q11-q13 region account for approximately 70% of the AS patients. These deletions are usually detected by fluorescence in situ hybridisation studies. The deletions can also be subclassified based on their size into class I and class II, with the former being larger and encompassing the latter.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> We studied 22 patients with AS due to microdeletions using a microarray based comparative genomic hybridisation (array CGH) assay to define the deletions and analysed their phenotypic severity, especially expression of the autism phenotype, in order to establish clinical correlations.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> Overall, children with larger, class I deletions were significantly more likely to meet criteria for autism, had lower cognitive scores, and lower expressive language scores compared with children with smaller, class II deletions. Children with class I deletions also required more medications to control their seizures than did those in the class II group.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> There are four known genes (<jats:italic>NIPA1<\/jats:italic>, <jats:italic>NIPA2<\/jats:italic>, <jats:italic>CYFIP1<\/jats:italic>, &amp; <jats:italic>GCP5<\/jats:italic>) that are affected by class I but not class II deletions, thus raising the possibility of a role for these genes in autism as well as the development of expressive language skills.<\/jats:p>","DOI":"10.1136\/jmg.2005.036913","type":"journal-article","created":{"date-parts":[[2005,9,23]],"date-time":"2005-09-23T20:33:56Z","timestamp":1127507636000},"page":"512-516","source":"Crossref","is-referenced-by-count":78,"title":["Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype 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