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

研究成果: Contribution to journalArticle査読

抄録

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.

本文言語英語
ページ(範囲)225-227
ページ数3
ジャーナルCongenital Anomalies
54
4
DOI
出版ステータス出版済み - 11 1 2014

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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