DOI
10.1159/000134628
Abstract
The distamycin A inducible fragile site, FRA8E, Fra(8) (q24.11) has been previously mapped to 8q24.11, proximal to the MYC gene, by fluorescent in situ hybridization (Takahasi et al., 1991). This fragile site has been shown to be present in about 1 out of every 140 healthy Japanese individuals (Takahasi et al., 1988). To more precisely map FRA8E, we have used cosmids isolated from the Langer-Giedion chromosomal region (LGCR) for FISH analysis. Langer-Giedion syndrome (LGS) is a contiguous gene syndrome characterized by chromosome deletions in Sq24.11 (Ludecke et al., 1991). One of the genes known to be involved in the etiology of LGS is hereditary multiple exostosis type 1 (EXTl). In addition to being associated with LGS, hereditary multiple exostosis is an independent disorder characterized by cartilage capped exostoses on the juxtaepiphyseal regions of the enchondral bones (Hennekam, 1991).
Document Type
Article
Publication Date
1997
Publisher Statement
Copyright © 1997 S. Karger AG, Basel. This article first appeared in Ctyogenetics and Cell Genetics 78 (1997): 56-57. doi:10.1159/000134628.
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Recommended Citation
Hill, April, Y. Harada, E. Takahashi, J. Hou, M. J. Wagner, and D. E. Wells. "Assignment of Fragile Site 8E (FRA8E) to Human Chromosome Band 8q24.11 Adjacent to the Hereditary Multiple Exostoses 1 Gene and Two Overlapping Langer-Giedion Syndrome Deletion Endpoints."Ctyogenetics and Cell Genetics 78 (1997): 56-57. doi:10.1159/000134628.