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

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...

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Veröffentlicht in:American journal of medical genetics 1996-03, Vol.62 (2), p.150-159
Hauptverfasser: Blanton, Susan Halloran, Hogue, Deborah, Wagner, Michael, Wells, Dan, Young, Ian D., Hecht, Jacqueline T.
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Sprache:eng
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Zusammenfassung: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. © 1996 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19960315)62:2<150::AID-AJMG7>3.0.CO;2-#