Abstract
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of cartilage capped prominences that develop from the epiphyses of the long bones. EXT is heterogeneous with three different locations currently identified on chromosomes 8, 11, and 19. Recently, we identified and studied 12 large multigenerational EXT families. Linkage analyses demonstrates that 6 of these families map to 8q24 and 6 to 11p. None of the families map to the chromosome 19 locus. The results suggest that there are two major loci, on chromosomes 8 and 11, involved in the cause of EXT. The locus on chromosome 19 remains to be confirmed.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 150-159 |
| Number of pages | 10 |
| Journal | American journal of medical genetics |
| Volume | 62 |
| Issue number | 2 |
| DOIs | |
| State | Published - Mar 15 1996 |
| Externally published | Yes |
Keywords
- chromosome 11
- chromosome 19
- chromosome 8
- EXT
- genetic study
- haplotype
- hereditary multiple exostoses
- Lager Giedion syndrome
- linkage study
ASJC Scopus subject areas
- Genetics(clinical)
- Neuroscience(all)
- Neuropsychology and Physiological Psychology
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Cite this
Blanton, S. H., Hogue, D., Wagner, M., Wells, D., Young, I. D., & Hecht, J. T. (1996). Hereditary multiple exostoses: Confirmation of linkage to chromosomes 8 and 11. American journal of medical genetics, 62(2), 150-159. https://doi.org/10.1002/(sici)1096-8628(19960315)62:2<150::aid-ajmg7>3.0.co;2-%23