{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T09:30:55Z","timestamp":1791019855935,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,10,9]],"date-time":"2013-10-09T00:00:00Z","timestamp":1381276800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2014,4]]},"abstract":"\n Aim<\/jats:title>\n \n Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (\n SLI<\/jats:styled-content>\n ) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia.\n <\/jats:p>\n <\/jats:sec>\n \n Method<\/jats:title>\n \n Genome\u2010wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with\n SLI<\/jats:styled-content>\n , from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years).\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n In the clinical language\u2010impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the\n SLI<\/jats:styled-content>\n replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two\n XYY<\/jats:styled-content>\n , four\n XXY<\/jats:styled-content>\n (Klinefelter syndrome), three\n XXX<\/jats:styled-content>\n , one\n XO<\/jats:styled-content>\n (Turner syndrome), and one unresolved karyotype were identified.\n <\/jats:p>\n <\/jats:sec>\n \n Interpretation<\/jats:title>\n \n The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non\u2010verbal\n IQ<\/jats:styled-content>\n . Early detection of these aneuploidies can provide information and direct the appropriate management for individuals.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/dmcn.12294","type":"journal-article","created":{"date-parts":[[2013,10,11]],"date-time":"2013-10-11T22:44:35Z","timestamp":1381531475000},"page":"346-353","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia"],"prefix":"10.1111","volume":"56","author":[{"given":"Nuala H","family":"Simpson","sequence":"first","affiliation":[{"name":"Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Addis","sequence":"additional","affiliation":[{"name":"Department of Clinical Neuroscience Institute of Psychiatry King's College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William M","family":"Brandler","sequence":"additional","affiliation":[{"name":"MRC Functional Genomics Unit Department of Physiology Anatomy & Genetics University of Oxford Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicky","family":"Slonims","sequence":"additional","affiliation":[{"name":"Newcomen Centre Evelina Children's Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Clark","sequence":"additional","affiliation":[{"name":"Speech and Hearing Sciences Queen Margaret University Edinburgh UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelynne","family":"Watson","sequence":"additional","affiliation":[{"name":"Speech and Hearing Sciences Queen Margaret University Edinburgh UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas S","family":"Scerri","sequence":"additional","affiliation":[{"name":"The Walter and Eliza Hall Institute of Medical Research Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth R","family":"Hennessy","sequence":"additional","affiliation":[{"name":"University Child Health and DMDE University of Aberdeen Aberdeen UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick F","family":"Bolton","sequence":"additional","affiliation":[{"name":"Departments of Child & Adolescent Psychiatry & Social Genetic & Developmental Psychiatry Centre Institute of Psychiatry King's College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gina","family":"Conti\u2010Ramsden","sequence":"additional","affiliation":[{"name":"School of Psychological Sciences University of Manchester Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin P","family":"Fairfax","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian C","family":"Knight","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Stein","sequence":"additional","affiliation":[{"name":"University of Oxford Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel B","family":"Talcott","sequence":"additional","affiliation":[{"name":"Aston University Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"O'Hare","sequence":"additional","affiliation":[{"name":"Department of Reproductive and Developmental Sciences University of Edinburgh Edinburgh UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gillian","family":"Baird","sequence":"additional","affiliation":[{"name":"Newcomen Centre Evelina Children's Hospital London 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