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
Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome
β Scribed by Masuno, Mitsuo ;Imaizumi, Kiyoshi ;Kurosawa, Kenji ;Makita, Yoshio ;Petrij, Fred ;Dauwerse, Hans G. ;Breuning, Martijn H. ;Kuroki, Yoshikazu
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 314 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0148-7299
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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
Chromosome imbalance affecting the short arm of chromosome 4 results in a variety of distinct clinical conditions. Most of them share a number of manifestations, such as mental retardation, microcephaly, pre-and post-natal growth retardation, anteverted and low-set ears, that can be considered as no