Rubinstein-Taybi LPU023

Rubinstein-Taybi Syndrome (RTS) is a well-defined condition characterized by short stature, mental retardation, facial abnormalities, and broad thumbs and first toes. It affects 1 in 100,000 newborns, and its phenotype has been associated with the disruption of a gene encoding a binding protein for cyclic adenosine monophosphate-response element binding protein (CBP) (CREBBP). Microdeletions including the CREBBP gene account for about 10-15% of RTS cases. Cytocell's Rubinstein-Taybi probe product covers 300 kb of the region encompassing the CREBBP gene so that larger deletions of the region can also be delineated.