Systematic screening for subtelomeric anomalies in a clinical sample of autism

Thomas H Wassink; Molly Losh; Joseph Piven; Val C Sheffield; Elizabeth Ashley; Erik R Westin; Shivanand R Patil

doi:10.1007/s10803-006-0196-9

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Systematic screening for subtelomeric anomalies in a clinical sample of autism

Journal article

Peer reviewed

Systematic screening for subtelomeric anomalies in a clinical sample of autism

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

Journal of autism and developmental disorders, Vol.37(4), pp.703-708

04/2007

DOI: 10.1007/s10803-006-0196-9

PMID: 17004120

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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.

Autistic Disorder - genetics

Diagnosis, Differential

Chromosome Banding

Genetic Testing

Asperger Syndrome - genetics

Humans

Genotype

In Situ Hybridization, Fluorescence

Male

Asperger Syndrome - diagnosis

Klinefelter Syndrome - genetics

Child Development Disorders, Pervasive - genetics

Karyotyping

Child Development Disorders, Pervasive - diagnosis

Chromosome Aberrations

Klinefelter Syndrome - diagnosis

Female

Autistic Disorder - diagnosis

Child

Telomere - genetics

Details

Title: Subtitle: Systematic screening for subtelomeric anomalies in a clinical sample of autism
Creators: Thomas H Wassink - Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. thomas-wassink@uiowa.edu
Molly Losh
Joseph Piven
Val C Sheffield
Elizabeth Ashley
Erik R Westin
Shivanand R Patil
Resource Type: Journal article
Publication Details: Journal of autism and developmental disorders, Vol.37(4), pp.703-708
DOI: 10.1007/s10803-006-0196-9
PMID: 17004120
NLM abbreviation: J Autism Dev Disord
ISSN: 0162-3257
eISSN: 1573-3432
Publisher: United States
Grant note: NS43550-01 / NINDS NIH HHS MH62123-01 / NIMH NIH HHS
Language: English
Date published: 04/2007
Academic Unit: Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9984003973402771

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