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

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Title: Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
Authors: Kwasnicka-Crawford DA (AUTHOR), Roberts W (AUTHOR), Scherer SW (AUTHOR)
Source: Journal of Autism & Developmental Disorders. Apr2007, Vol. 37 Issue 4, p694-702. 9p.
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. [ABSTRACT FROM AUTHOR]
Copyright of Journal of Autism & Developmental Disorders is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
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  Data: <searchLink fieldCode="AR" term="%22Kwasnicka-Crawford+DA%22">Kwasnicka-Crawford DA</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Roberts+W%22">Roberts W</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Scherer+SW%22">Scherer SW</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Journal+of+Autism+%26+Developmental+Disorders%22">Journal of Autism & Developmental Disorders</searchLink>. Apr2007, Vol. 37 Issue 4, p694-702. 9p.
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: 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. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Journal of Autism & Developmental Disorders is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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