Autism Research Today is a free monthly online journal that collates and summarizes the latest research about Autism, including details on symptoms, diagnosis, treatment, causes, effects.

Systematic screening for subtelomeric anomalies in a clinical sample of autism.

Wassink TH, Losh M, Piven J, Sheffield VC, Ashley E, Westin ER, Patil SR

Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. thomas-wassink@uiowa.edu

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.

Published 6 April 2007 in J Autism Dev Disord, 37(4): 703-8.
Full-text of this article is available online (may require subscription).

© 2004-2008 Autism Research Today. All Rights Reserved.