Langer-Giedion LPU022

Langer-Giedion (LGS; tricho-rhino-phalangeal syndrome type II) syndrome is characterized by cranio-facial and skeletal abnormalities, multiple cartilaginous exostoses, cone-shaped epiphyses and mental retardation. It combines the clinical features of two autosomal dominant diseases: tricho-rhino-phalangeal syndrome type 1 (TRPS1) and multiple cartilaginous exostoses (EXT1). TRPS1 gene maps more than 1,000 kb proximal to the EXT1. The Cytocell probe will help delineate the extent of the deletion and will distinguish between the EXT1 and TRPS1 deletions.