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Langer-Giedion LPU 022 - Detail
Langer-Giedion syndrome (LGS; tricho-rhino-phalangeal syndrome type II) is a contiguous gene deletion syndrome involving 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 phenotype. LGS 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 1,000Kb proximal to the EXT12,3.
References:
- Buhler, Malik, Am J Med Genet 1984;19:113-9
- Ludecke HJ et al., Hum Mol Genet 1995;4:31-6
- Hou et al., Genomics 1995;29(1):87-97
Langer-Giedion
Cat. No. LPU 022-S (5 tests)
Cat. No. LPU 022 (10 tests)
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