caa a22 4500 463250648 CHVBK 20180405153339.0 cr unu---uuuuu 170326e20070401xx s 000 0 eng 10.1007/s10803-006-0225-8 doi (NATIONALLICENCE)springer-10.1007/s10803-006-0225-8 Characterization of an Autism-Associated Segmental Maternal Heterodisomy of the Chromosome 15q11-13 Region [Elektronische Daten] [Dorota Kwasnicka-Crawford, Wendy Roberts, Stephen Scherer] 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. Springer Science+Business Media, LLC, 2006 Autistic disorder nationallicence Chromosomal anomalies nationallicence Prader Willi/Angelman region, small supernumerary chromosome nationallicence Kwasnicka-Crawford Dorota Program in Genetics and Genomic Biology, The Hospital for Sick Children, M5G-1X8, Toronto, ON, Canada aut Roberts Wendy Department of Pediatrics, The Child Developmental Center, Toronto, ON, Canada aut Scherer Stephen Program in Genetics and Genomic Biology, The Hospital for Sick Children, M5G-1X8, Toronto, ON, Canada aut Journal of Autism and Developmental Disorders Kluwer Academic Publishers-Plenum Publishers; http://www.springer-ny.com 37/4(2007-04-01), 694-702 0162-3257 37:4<694 2007 37 10803 https://doi.org/10.1007/s10803-006-0225-8 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10803-006-0225-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kwasnicka-Crawford Dorota Program in Genetics and Genomic Biology, The Hospital for Sick Children, M5G-1X8, Toronto, ON, Canada aut NATIONALLICENCE 700 1- Roberts Wendy Department of Pediatrics, The Child Developmental Center, Toronto, ON, Canada aut NATIONALLICENCE 700 1- Scherer Stephen Program in Genetics and Genomic Biology, The Hospital for Sick Children, M5G-1X8, Toronto, ON, Canada aut NATIONALLICENCE 773 0- Journal of Autism and Developmental Disorders Kluwer Academic Publishers-Plenum Publishers; http://www.springer-ny.com 37/4(2007-04-01), 694-702 0162-3257 37:4<694 2007 37 10803 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer