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https://hdl.handle.net/2440/7354
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Type: | Journal article |
Title: | Molecular dissection of a contiguous gene syndrome: Localization of the genes involved in the Langer-Giedion syndrome |
Author: | Ludecke, H.J. Wagner, M. Nardmann, J. La Pillo, B. Parrish, J. Willems, P. Sutherland, G. |
Citation: | Human Molecular Genetics, 1995; 4(1):31-36 |
Publisher: | IRL Press |
Issue Date: | 1995 |
ISSN: | 0964-6906 1460-2083 |
Abstract: | The Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II, TRPS II) is characterized by craniofacial dysmorphism and skeletal abnormalities. It combines the clinical features of TRPS I and multiple cartilaginous exostoses (EXT). We have used YAC cloning, Southern blotting, PCR analysis, and fluorescence in situ hybridization to study chromosome 8 deletions, translocations, an inversion, and an insertion in patients with TRPS I, TRPS II or EXT. Our results indicate that the TRPS gene maps more than 1,000 kb proximal to the EXT1 gene and that both genes are affected in TRPS II. We conclude that TRPS II is not due to pleiotropic effects of mutations in a single gene, but that it is a true contiguous gene syndrome. |
Keywords: | Chromosomes, Artificial, Yeast Chromosomes, Human, Pair 8 Humans Langer-Giedion Syndrome Translocation, Genetic DNA Primers In Situ Hybridization, Fluorescence Chromosome Mapping Mutagenesis, Insertional Gene Deletion Base Sequence Molecular Sequence Data Chromosome Inversion |
DOI: | 10.1093/hmg/4.1.31 |
Published version: | http://dx.doi.org/10.1093/hmg/4.1.31 |
Appears in Collections: | Aurora harvest Paediatrics publications |
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