Confirmation of assigment of a locus for rubinstein-taybi syndrome gene to 16p13.3
β Scribed by Lacombe, Didier ;Saura, Robert ;Taine, Laurence ;Battin, Jacques
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 222 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0148-7299
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The Rubinstein-Taybi syndrome (RTS) is a well-defined entity characterized by growth and mental retardation, broad thumbs and halluces, and typical face. The RTS locus was assigned to 16p13.3, and interstitial submicroscopic deletions of this region (RT1 cosmid, D16S237) were initially identified in
Most reported microdeletions of the CREBbinding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were detected by fluorescence in situ hybridization (FISH) with a single cosmid probe specific to the 3 region of the gene. In order to test the hypothesis that the rate of microdeletionpositive