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Langer-Giedion

Applications
constitutional
Catalogue Numbers
LPU 022 (10 tests)
LPU 022-S (5 tests)

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.

In our hands, Cytocell FISH probes, have proven to be of the highest quality with bright, easy to interpret signals, thus providing confidence in our results. Cytocell’s customer support is outstanding, as their staff are extremely knowledgeable and truly care about their customers and their customers’ needs. Jennie Thurston, Director of Cytogenetics at Carolinas Pathology Group

References

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

Microscope Images

Langer Giedion magnified

Disclaimer

This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.