Sh. Blanton et al., HEREDITARY MULTIPLE EXOSTOSES - CONFIRMATION OF LINKAGE TO CHROMOSOME-8 AND CHROMOSOME-11, American journal of medical genetics, 62(2), 1996, pp. 150-159
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder
characterized by the formation of cartilage capped prominences that de
velop from the epiphyses of the long bones, EXT is heterogeneous with
three different locations currently identified on chromosomes 8, 11, a
nd 19, Recently, we identified and studied 12 large multigenerational
EXT families, Linkage analyses demonstrates that 6 of these families m
ap 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 chromoso
mes 8 and 11, involved in the cause of EXT, The locus on chromosome 19
remains to be confirmed. (C) 1996 Wiley-Liss, Inc.