Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome

Tatsuhiko Yagihashi, Chiharu Torii, Reiko Takahashi, Mikimasa Omori, Rika Kosaki, Hiroshi Yoshihashi, Masahiro Ihara, Yasuyo Minagawa-Kawai, Junichi Yamamoto, Takao Takahashi, Kenjiro Kosaki

Research output: Contribution to journalArticle

Abstract

To reveal the relation between intellectual disability and the deleted intervals in Williams syndrome, we performed an array comparative genomic hybridization analysis and standardized developmental testing for 11 patients diagnosed as having Williams syndrome based on fluorescent in situ hybridization testing. One patient had a large 4.2-Mb deletion spanning distally beyond the common 1.5-Mb intervals observed in 10/11 patients. We formulated a linear equation describing the developmental age of the 10 patients with the common deletion; the developmental age of the patient with the 4.2-Mb deletion was significantly below the expectation (developmental age=0.51×chronological age). The large deletion may account for the severe intellectual disability; therefore, the use of array comparative genomic hybridization may provide practical information regarding individuals with Williams syndrome.

Original languageEnglish
Pages (from-to)225-227
Number of pages3
JournalCongenital anomalies
Volume54
Issue number4
DOIs
Publication statusPublished - 2014 Nov 1

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Keywords

  • Array comparative genomic hybridization
  • Atypical deletion
  • Severe intellectual disability
  • Williams syndrome

ASJC Scopus subject areas

  • Medicine(all)

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