Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders

Kory Keller, Charles Williams, Paul Wharton, Martha Paulk, Angela Bent-Williams, Brian Gray, Angie Ward, Heather Stalker, Margaret Wallace, Randy Carter, Roberto Zori

Research output: Contribution to journalArticlepeer-review

21 Scopus citations

Abstract

To assess the frequency of cytogenetic abnormalities in children with autism spectrum disorders (ASDs), routine G-banded cytogenetic analyses and FISH studies to rule out 15q11.2 and 17p11.2 duplications were performed on 49 children with ASDs. Blood samples were further studied using a complete set of subtelomeric FISH probes. Routine chromosome study showed that one child had a small duplication of chromosome 5: 46,XY,dup(5)(p?14.2p?15.1). Another child had an interstitial duplication of the Prader-Willi and Angelman syndrome critical region of chromosome 15, detected by FISH analysis. The detection of these two cases underscores the importance of obtaining routine chromosome and 15q11-q13 FISH analyses in children with ASDs. No instance of 17p11.2 duplication was observed. Subtelomeric analysis did not reveal abnormalities in any of the subjects.

Original languageEnglish (US)
Pages (from-to)105-111
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume117 A
Issue number2
DOIs
StatePublished - Mar 1 2003

Keywords

  • Autism
  • Autism spectrum disorder
  • Cytogenetic analysis
  • Dup (17)(p11.2)
  • Dup (5)p, dup (15)(q11-13)
  • Telomere

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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