Hereditary multiple exostoses: Confirmation of linkage to chromosomes 8 and 11

Susan Halloran Blanton; Deborah Hogue; Michael Wagner; Dan Wells; Ian D. Young; Jacqueline T. Hecht

doi:10.1002/(sici)1096-8628(19960315)62:2<150::aid-ajmg7>3.0.co;2-%23

Hereditary multiple exostoses: Confirmation of linkage to chromosomes 8 and 11

Susan Halloran Blanton, Deborah Hogue, Michael Wagner, Dan Wells, Ian D. Young, Jacqueline T. Hecht

Research output: Contribution to journal › Article › peer-review

24 Scopus citations

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	https://doi.org/10.1002/(sici)1096-8628(19960315)62:2<150::aid-ajmg7>3.0.co;2-%23
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

Access to Document

10.1002/(sici)1096-8628(19960315)62:2<150::aid-ajmg7>3.0.co;2-%23

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title = "Hereditary multiple exostoses: Confirmation of linkage to chromosomes 8 and 11",

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.",

keywords = "chromosome 11, chromosome 19, chromosome 8, EXT, genetic study, haplotype, hereditary multiple exostoses, Lager Giedion syndrome, linkage study",

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year = "1996",

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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.

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