{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T15:24:47Z","timestamp":1780586687192,"version":"3.54.1"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,7,23]],"date-time":"2018-07-23T00:00:00Z","timestamp":1532304000000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:p>Copy number variants at chromosome 17q12 have been associated with a spectrum of phenotypes. Deletions of 17q12 are well described and associated with maturity onset diabetes of the young type 5 (MODY5) and cystic renal disease (HNF1\u03b2) as well as cognitive impairment and seizures. Duplication of 17q12 is emerging as a new genetic syndrome, associated with learning disability, seizures, and behavioral problems. The duplication is often inherited from an apparently unaffected parent. Here, we describe a three\u2010generation family with multiple individuals carrying a17q12 microduplication with varying clinical features, consistent with variable penetrance. The proband who inherited a 1.8 Mb interstitial 17q12 duplication from his mother presented with developmental delay, behavioral problems, and mild dysmorphism. One of his sisters, his maternal uncle, and his maternal grandmother also carry the 17q12 microduplication. Clinical features of the carriers include renal problems, diabetes mellitus, learning difficulties, epilepsy and mental illness. Cognitive abilities range from normal function to moderate impairment (full\u2010scale IQ range: 52\u201099). In light of recent reports of association of this locus with schizophrenia, we performed a detailed psychiatric assessment and confirmed that one family member has symptoms consistent with a diagnosis of schizophrenia and another has a prodromal syndrome with attenuated positive symptoms of psychosis. This report extends the clinical phenotype associated with the 17q12 microduplication and highlights the phenotypic variability.<\/jats:p>","DOI":"10.1002\/ajmg.b.32643","type":"journal-article","created":{"date-parts":[[2018,7,24]],"date-time":"2018-07-24T06:01:06Z","timestamp":1532412066000},"page":"520-528","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes"],"prefix":"10.1002","volume":"177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3907-0279","authenticated-orcid":false,"given":"Arveen","family":"Kamath","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics, All Wales Medical Genetics Service University Hospital of Wales Cardiff United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie C.","family":"Linden","sequence":"additional","affiliation":[{"name":"Neuroscience and Mental Health Research Institute Cardiff University Cardiff United Kingdom"},{"name":"MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine Cardiff University Cardiff United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ffion M.","family":"Evans","sequence":"additional","affiliation":[{"name":"Neuroscience and Mental Health Research Institute Cardiff University Cardiff United Kingdom"},{"name":"MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine Cardiff University Cardiff United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Hall","sequence":"additional","affiliation":[{"name":"Neuroscience and Mental Health Research Institute Cardiff University Cardiff United Kingdom"},{"name":"MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine Cardiff University Cardiff United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sian F.","family":"Jose","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, All Wales Medical Genetics Service University Hospital of Wales Cardiff United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally A.","family":"Spillane","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, All Wales Medical Genetics Service University Hospital of Wales Cardiff United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan D. R.","family":"Hardie","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, All Wales Medical Genetics Service University Hospital of Wales Cardiff United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sian M.","family":"Morgan","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, All Wales Medical Genetics Service University Hospital of Wales Cardiff United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela T.","family":"Pilz","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, All Wales Medical Genetics Service University Hospital of Wales Cardiff United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,7,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000418013"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35730"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35267"},{"key":"e_1_2_7_5_1","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1089\/dna.1997.16.671","article-title":"Cloning, expression, and chromosomal localization to 11p12\u201313 of a human LIM\/HOMEOBOX gene, hLim\u20101","volume":"16","author":"Dong W. 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