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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)703-708
Number of pages6
JournalJournal of Autism and Developmental Disorders
Issue number4
StatePublished - Apr 2007


  • Autism
  • Chromosomal anomalies
  • FISH
  • Karyotyping
  • Subtelomere

ASJC Scopus subject areas

  • Developmental and Educational Psychology

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