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ERIC Number: EJ760897
Record Type: Journal
Publication Date: 2007-Apr
Pages: 5
Abstractor: Author
ISBN: N/A
ISSN: ISSN-0162-3257
EISSN: N/A
Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism
Wassink, Thomas H.; Losh, Molly; Piven, Joseph; Sheffield, Val C.; Ashley, Elizabeth; Westin, Erik R.; Patil, Shivanand R.
Journal of Autism and Developmental Disorders, v37 n4 p703-708 Apr 2007
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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Publication Type: Journal Articles; Reports - Evaluative
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A
Grant or Contract Numbers: N/A