Document Detail

Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
MedLine Citation:
PMID:  17006779     Owner:  NLM     Status:  MEDLINE    
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.
Dorota A Kwasnicka-Crawford; Wendy Roberts; Stephen W Scherer
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of autism and developmental disorders     Volume:  37     ISSN:  0162-3257     ISO Abbreviation:  J Autism Dev Disord     Publication Date:  2007 Apr 
Date Detail:
Created Date:  2007-04-06     Completed Date:  2007-06-08     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  7904301     Medline TA:  J Autism Dev Disord     Country:  United States    
Other Details:
Languages:  eng     Pagination:  694-702     Citation Subset:  IM    
Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada M5G-1X8.
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MeSH Terms
Angelman Syndrome / diagnosis,  genetics
Autistic Disorder / diagnosis,  genetics*
Chromosome Banding
Chromosome Mapping
Chromosomes, Human, Pair 15 / genetics*
Developmental Disabilities / diagnosis,  genetics*
Gene Duplication
Genetic Markers / genetics
In Situ Hybridization, Fluorescence
Language Development Disorders / diagnosis,  genetics*
Microsatellite Repeats
Personality Assessment
Prader-Willi Syndrome / diagnosis,  genetics
Statistics as Topic
Uniparental Disomy / diagnosis*,  genetics*
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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