Langer-Giedion syndrome (LGS; tricho-rhino-phalangeal syndrome type II) is an autosomal dominant contiguous gene deletion syndrome involving chromosome bands 8q23.3 and 8q24.11.
LGS is characterised by cranio-facial and skeletal abnormalities including multiple cartilaginous exostoses and cone-shaped epiphyses. Mental retardation is also a common finding. LGS combines the clinical features of two autosomal dominant diseases: tricho-rhino-phalangeal syndrome type 1 and multiple cartilaginous exostoses (caused by defects in the TRPS1 and EXT1 genes respectively). Both genes involved in these conditions are within the Langer-Giedion deletion region, though TRPS1 maps more than 1Mb proximal to EXT12,3.
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1. Buhler, Malik, Am J Med Genet 1984;19:113-9
2. Ludecke HJ et al., Hum Mol Genet 1995;4:31-6
3. Hou et al., Genomics 1995;29(1):87-97
This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.