title: Systematic screening for subtelomeric anomalies in a clinical sample of autism.
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.
authors.affiliation: Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. thomas-wassink@uiowa.edu
authors.forename: Thomas H
authors.initials: TH
authors.lastname: Wassink
authors.forename: Molly
authors.initials: M
authors.lastname: Losh
authors.forename: Joseph
authors.initials: J
authors.lastname: Piven
authors.forename: Val C
authors.initials: VC
authors.lastname: Sheffield
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Ashley
authors.forename: Erik R
authors.initials: ER
authors.lastname: Westin
authors.forename: Shivanand R
authors.initials: SR
authors.lastname: Patil
mesh_terms: D020817:Asperger Syndrome / Q000175:diagnosis / Q000235:genetics*; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D003937:Diagnosis, Differential; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000235:genetics; D008297:Male; D016615:Telomere / Q000235:genetics*