TY - JOUR
T1 - Hereditary multiple exostoses
T2 - Confirmation of linkage to chromosomes 8 and 11
AU - Blanton, Susan Halloran
AU - Hogue, Deborah
AU - Wagner, Michael
AU - Wells, Dan
AU - Young, Ian D.
AU - Hecht, Jacqueline T.
PY - 1996/3/15
Y1 - 1996/3/15
N2 - 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.
AB - 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.
KW - chromosome 11
KW - chromosome 19
KW - chromosome 8
KW - EXT
KW - genetic study
KW - haplotype
KW - hereditary multiple exostoses
KW - Lager Giedion syndrome
KW - linkage study
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U2 - 10.1002/(sici)1096-8628(19960315)62:2<150::aid-ajmg7>3.0.co;2-%23
DO - 10.1002/(sici)1096-8628(19960315)62:2<150::aid-ajmg7>3.0.co;2-%23
M3 - Article
C2 - 8882395
AN - SCOPUS:0030006019
VL - 62
SP - 150
EP - 159
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
SN - 1552-4825
IS - 2
ER -