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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.

In a series of 25 Japanese patients with Rubinstein-Taybi syndrome, we screened, by high-resolution GTG banding and fluorescence in situ hybridization of a cosmid probe (RT1, D16S237), for microdeletions associated with this syndrome. In one patient, a microdeletion was demonstrated by in situ hybridization, but none were detected by high-resolution banding.[1]

References

  1. Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome. Masuno, M., Imaizumi, K., Kurosawa, K., Makita, Y., Petrij, F., Dauwerse, H.G., Breuning, M.H., Kuroki, Y. Am. J. Med. Genet. (1994) [Pubmed]
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