Cases reported "Rubinstein-Taybi Syndrome"

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1/1. 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.
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