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Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11‐12 (EXT2) in patients with sporadic and hereditary osteochondromas

Osteochondroma most frequently arises sporadically and as a solitary lesion, but also may arise as multiple lesions characterizing the autosomal dominant disorder hereditary multiple exostoses (HME) and the contiguous gene syndromes Langer‐Giedion and DEFECT‐11 syndromes. HME is genetically heterogeneous with association of three loci including 8q24.1 (EXT1), 11p11‐12 (EXT2), and 19p (EXT3). Constitutional chromosomal microdeletions of 8q24.1 and 11p11‐12 are features of the Langer‐Giedion and DEFECT‐11 syndromes, respectively. Cytogenetic studies of osteochondroma are rare.