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Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16) (p13.3; p13.3)

โœ Scribed by Imaizumi, Kiyoshi ;Kuroki, Yoshikazu

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
273 KB
Volume
38
Category
Article
ISSN
0148-7299

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๐Ÿ“œ SIMILAR VOLUMES

Rubinstein-Taybi syndrome caused by a de
Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q36.3;p13.3)
โœ Petrij, Fred; Dorsman, Josephine C.; Dauwerse, Hans G.; Giles, Rachel H.; Peeter ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 32 KB ๐Ÿ‘ 1 views

## Rubinstein -Taybi syndrome (RTS) is a multiple congenital anomalies and mental retardation syndrome characterized by facial abnormalities, broad thumbs, and broad big toes. We have shown previously that disruption of the human CREB-binding protein (CBP) gene, either by gross chromosomal rearrang

Submicroscopic deletion of chromosome 16
Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome
โœ Taine, Laurence; Goizet, Cyril; Wen, Zong Qi; Petrij, Fred; Breuning, Martijn H. ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 20 KB ๐Ÿ‘ 1 views

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