title: Case report: autistic disorder and chromosomal abnormality 46, XX duplication (4) p12-p13.
abstract: We report an 18-year-old female with a diagnosis of DSM-IV Autistic Disorder and moderate to severe mental retardation who was discovered to have a previously undescribed chromosomal abnormality 46, XX, duplication (4) p12-p13. We discuss her history and diagnosis, noting that the co-occurrence of her diagnoses have not previously been documented. The report adds to the literature supporting the argument that individuals with autistic spectrum disorders should be re-examined for chromosomal abnormalities.
authors.affiliation: Department of Psychiatry of Disability St George's Hospital Medical School, London. mangasaba@aol.com
authors.forename: M
authors.initials: M
authors.lastname: Sabaratnam
authors.forename: J
authors.initials: J
authors.lastname: Turk
authors.forename: P
authors.initials: P
authors.lastname: Vroegop
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D015897:Comorbidity; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D014314:Trisomy