Nuala H. Simpson|Laura Addis|William M. Brandler|Vicky Slonims|Ann Clark|Jocelynne Watson|Thomas Scerri|Elizabeth R Hennessy|Patrick Bolton|Gina Conti?Ramsden|Benjamin P. Fairfax|Julian C. Knight|John Stein|Joel B. Talcott|Anne O’Hare|Gillian Baird|Silvia Paracchini|Simon E. Fisher|Dianne F. Newbury|SLI Consortium
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia
Wellcome Centre for Human Genetics|University of Oxford|King's College London|University of Oxford|Genomics (United Kingdom)|Evelina London Children's Healthcare|Queen Margaret University|Queen Margaret University|Walter and Eliza Hall Institute of Medical Research|University of Aberdeen|King's College London|University of Manchester|Wellcome Centre for Human Genetics|University of Oxford|Wellcome Centre for Human Genetics|University of Oxford|University of Oxford|Aston University|University of Edinburgh|Evelina London Children's Healthcare|University of St Andrews|Max Planck Institute for Psycholinguistics|Radboud University Nijmegen|Wellcome Centre for Human Genetics|University of Oxford
sex chromosome aneuploidies increase risk spoken written language disorders individuals specific language impairment sli dyslexia routinely undergo cytogenetic analysis assess frequency sex chromosome aneuploidies individuals language impairment dyslexiagenomewide single nucleotide polymorphism genotyping performed three sample sets clinical cohort individuals speech language deficits 87 probands 61 males 26 females age range 4 23 years replication cohort individuals sli clinical epidemiological samples 209 probands 139 males 70 females age range 4 17 years set individuals dyslexia 314 probands 224 males 90 females age range 7 18 yearsin clinical languageimpaired cohort three abnormal karyotypic results identified probands proband yield 34 sli replication cohort six abnormalities identified providing consistent proband yield 29 sample individuals dyslexia two sex chromosome aneuploidies found giving lower proband yield 06 total two xyy four xxy klinefelter syndrome three xxx one xo turner syndrome one unresolved karyotype identifiedthe frequency sex chromosome aneuploidies within three cohorts increased expected population frequency approximately 025 suggesting genetic testing may prove worthwhile individuals language literacy problems normal nonverbal iq early detection aneuploidies provide information direct appropriate management individuals