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Gepubliceerd in: Journal of Autism and Developmental Disorders 4/2007

01-04-2007 | Original Paper

Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism

Auteurs: Thomas H. Wassink, Molly Losh, Joseph Piven, Val C. Sheffield, Elizabeth Ashley, Erik R. Westin, Shivanand R. Patil

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 4/2007

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Abstract

High-resolution karyotyping detects cytogenetic anomalies in 5–10% of cases of autism. Karyotyping, however, may fail to detect abnormalities of chromosome subtelomeres, which are gene rich regions prone to anomalies. We assessed whether panels of FISH probes targeted for subtelomeres could detect abnormalities beyond those identified by karyotyping in 104 individuals with Pervasive Developmental Disorders (PDDs) drawn from a general clinical population. Four anomalies were detected by karyotyping, while no additional anomalies were detected by subtelomere FISH or by probes targeted for 15q11.2q13 or 22q11.2 in subgroups of our sample. We conclude that while karyotyping may be more broadly indicated for autism than previously supposed, subtelomere FISH appears less likely to be a useful screening tool for unselected PDD populations.
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Metagegevens
Titel
Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism
Auteurs
Thomas H. Wassink
Molly Losh
Joseph Piven
Val C. Sheffield
Elizabeth Ashley
Erik R. Westin
Shivanand R. Patil
Publicatiedatum
01-04-2007
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 4/2007
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-006-0196-9