title: Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
abstract: Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome (PWS/AS) critical region have been described in individuals with autism. Maternal duplications and linkage disequilibrium in families with autism suggest the existence of a susceptibility locus at 15q11-q13. Here, we describe a 6-year-old girl diagnosed with autism, developmental delay, and delayed expressive and receptive language. The karyotype was designated de novo 47, XX, idic(15)(q13). Fluorescence in situ hybridization (FISH) and molecular analysis with 15q11-q13 markers revealed an additional copy of the region being of maternal origin. Duplication of the 15q11-q13 segment represents the most consistent known chromosomal abnormality reported in association with autism. This present case report reinforces the hypothesis that additional copies of this chromosome segment are causally related to autism.
authors.affiliation: Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada M5G-1X8.
authors.forename: Dorota A
authors.initials: DA
authors.lastname: Kwasnicka-Crawford
authors.forename: Wendy
authors.initials: W
authors.lastname: Roberts
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
mesh_terms: D000483:Alleles; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics*; D018895:Microsatellite Repeats; D010552:Personality Assessment; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics; D013223:Statistics as Topic; D024182:Uniparental Disomy / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D005819:Genetic Markers