Article
Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome.
Congenital anomalies - 1 Nov 2014
Yagihashi Tatsuhiko, Torii Chiharu, Takahashi Reiko, Omori Mikimasa, Kosaki Rika, Yoshihashi Hiroshi, Ihara Masahiro, Minagawa-Kawai Yasuyo, Yamamoto Junichi, Takahashi Takao, Kosaki Kenjiro
Abstract excerpt
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...
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