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Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome |
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| Authors: | Tatsuhiko Yagihashi Chiharu Torii Reiko Takahashi Mikimasa Omori Rika Kosaki Hiroshi Yoshihashi Masahiro Ihara Yasuyo Minagawa‐Kawai Junichi Yamamoto Takao Takahashi Kenjiro Kosaki |
| Affiliation: | 1. Department of Child Psychiatry, Komagino Hospital, , Tokyo, Japan;2. Center for Medical Genetics, Keio University School of Medicine, , Tokyo, Japan;3. Department of Psychology, Graduate School of Human Relations, Keio University, , Tokyo, Japan;4. Japan Portage Association, , Tokyo, Japan;5. Department of Pediatrics, Keio University School of Medicine, , Tokyo, Japan;6. Division of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, , Tokyo, Japan;7. Division of Medical Genetics, Tokyo Metropolitan Children's Medical Center, , Tokyo, Japan;8. Department of Pediatrics, Saiseikai Utsunomiya Hospital, , Tochigi, Japan;9. Department of Psychology, Faculty of Letters, Keio University, , Tokyo, Japan |
| 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. |
| Keywords: | array comparative genomic hybridization atypical deletion severe intellectual disability Williams syndrome |
