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Literature DB >> 17006779

Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.

Dorota A Kwasnicka-Crawford¹, Wendy Roberts, Stephen W Scherer.

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.

Entities: Disease Species

Mesh：

Substances：
Genetic Markers

Year: 2007 PMID： 17006779 DOI： 10.1007/s10803-006-0225-8

Source DB: PubMed Journal: J Autism Dev Disord ISSN： 0162-3257

52 in total

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10 in total

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3. Sporadic Pseudohypoparathyroidism Type 1B in Monozygotic Twins: Insights Into the Pathogenesis of Methylation Defects.

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